#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DCAF4L2	138009	broad.mit.edu	37	8	88885200	88885200	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:88885200G>C	ENST00000319675.3	-	1	1096	c.1000C>G	c.(1000-1002)Cag>Gag	p.Q334E		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	334										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						TAGCAGTCCTGGCCCACGGCC	0.572																																						ENST00000319675.3																			0				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						c.(1000-1002)Cag>Gag		DDB1 and CUL4 associated factor 4-like 2							76.0	83.0	80.0					8																	88885200		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885200G>C	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.1000C>G	8.37:g.88885200G>C	ENSP00000316496:p.Gln334Glu						p.Q334E	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1096	-			334						Missense_Mutation	SNP	ENST00000319675.3	37	c.1000C>G	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704656	0.48412	.	.	ENSG00000176566	ENST00000319675	T	0.55413	0.52	1.49	0.545	0.17190	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.37561	1.115	0.34412	D	0.696486	P	0.40909	0.732	P	0.54499	0.754	T	0.54050	-0.8351	10	0.31617	T	0.26	.	5.5075	0.16862	0.2033:0.0:0.7967:0.0	.	334	Q8NA75	DC4L2_HUMAN	E	334	ENSP00000316496:Q334E	ENSP00000316496:Q334E	Q	-	1	0	DCAF4L2	88954316	1.000000	0.71417	0.481000	0.27354	0.894000	0.52154	6.093000	0.71422	-0.018000	0.14079	0.467000	0.42956	CAG		0.572	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		17	35	0	0	0	1	0	17	35				
GDF3	9573	broad.mit.edu	37	12	7843233	7843233	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7843233G>A	ENST00000329913.3	-	2	383	c.336C>T	c.(334-336)aaC>aaT	p.N112N		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	112					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCAGACAGGTTAAAGTAGA	0.478																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(334-336)aaC>aaT		growth differentiation factor 3							64.0	73.0	70.0					12																	7843233		2203	4300	6503	SO:0001819	synonymous_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7843233G>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.336C>T	12.37:g.7843233G>A							p.N112N	NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN			2	383	-			112					Q8NEJ4	Silent	SNP	ENST00000329913.3	37	c.336C>T	CCDS8581.1																																																																																				0.478	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			18	42	0	0	0	1	0	18	42				
SREBF1	6720	broad.mit.edu	37	17	17721591	17721591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:17721591G>A	ENST00000261646.5	-	6	1350	c.1166C>T	c.(1165-1167)aCt>aTt	p.T389I	SREBF1_ENST00000435530.2_Missense_Mutation_p.T389I|SREBF1_ENST00000355815.4_Missense_Mutation_p.T419I|SREBF1_ENST00000395757.1_Missense_Mutation_p.T135I|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Missense_Mutation_p.T389I	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	389	Interaction with LMNA. {ECO:0000250}.|Leucine-zipper.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GTGGACAGCAGTGCGCAGACT	0.547																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1255-1257)aCt>aTt		sterol regulatory element binding transcription factor 1							133.0	109.0	117.0					17																	17721591		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17721591G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1166C>T	17.37:g.17721591G>A	ENSP00000261646:p.Thr389Ile					SREBF1_ENST00000338854.5_Missense_Mutation_p.T389I|SREBF1_ENST00000395757.1_Missense_Mutation_p.T135I|SREBF1_ENST00000261646.5_Missense_Mutation_p.T389I|SREBF1_ENST00000435530.2_Missense_Mutation_p.T389I	p.T419I	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			7	1425	-			389			Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1256C>T	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602742	0.46423	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	T;T;T;T;T	0.76839	0.65;0.65;0.66;1.07;-1.05	5.13	1.45	0.22620	Helix-loop-helix DNA-binding (2);	0.382752	0.29376	N	0.012336	T	0.55465	0.1922	N	0.22421	0.69	0.30324	N	0.787319	B;B;B;B	0.33413	0.411;0.004;0.025;0.199	B;B;B;B	0.27076	0.076;0.011;0.022;0.075	T	0.51553	-0.8691	10	0.37606	T	0.19	-0.8583	3.9079	0.09190	0.2364:0.5078:0.2558:0.0	.	389;365;389;419	B0I4X3;B0I4X4;P36956;P36956-4	.;.;SRBP1_HUMAN;.	I	389;419;389;135;226;315;389	ENSP00000345822:T389I;ENSP00000348069:T419I;ENSP00000261646:T389I;ENSP00000379106:T135I;ENSP00000413389:T389I	ENSP00000261646:T389I	T	-	2	0	SREBF1	17662316	1.000000	0.71417	0.258000	0.24420	0.936000	0.57629	3.606000	0.54095	0.507000	0.28148	0.561000	0.74099	ACT		0.547	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		13	52	0	0	0	1	0	13	52				
PPM1J	333926	broad.mit.edu	37	1	113252867	113252867	+	Missense_Mutation	SNP	C	C	T	rs113935705		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:113252867C>T	ENST00000309276.6	-	10	1611	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	PPM1J_ENST00000464951.1_Missense_Mutation_p.R273H|PPM1J_ENST00000359994.4_Missense_Mutation_p.R273H|RHOC_ENST00000339083.7_5'Flank|RHOC_ENST00000369642.3_5'Flank|RP11-426L16.10_ENST00000606505.1_Intron|RP11-426L16.10_ENST00000471038.2_Intron	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	479	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGGAGACGCCAGCCACG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17374	0.0		0.0	False		,,,				2504	0.001					ENST00000464951.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(817-819)cGt>cAt		protein phosphatase, Mg2+/Mn2+ dependent, 1J		C	HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	47.0	52.0	50.0		1436	4.9	1.0	1	dbSNP_132	50	0,8600		0,0,4300	no	missense	PPM1J	NM_005167.5	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	479/506	113252867	2,13004	2203	4300	6503	SO:0001583	missense	333926							g.chr1:113252867C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1436G>A	1.37:g.113252867C>T	ENSP00000308926:p.Arg479His					PPM1J_ENST00000359994.4_Missense_Mutation_p.R273H|RP11-426L16.10_ENST00000471038.2_Intron|RP11-426L16.10_ENST00000606505.1_Intron|PPM1J_ENST00000309276.6_Missense_Mutation_p.R479H	p.R273H			Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2226	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	479			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.818G>A	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252604	0.80135	4.54E-4	0.0	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.34859	1.34;1.44	5.77	4.87	0.63330	Protein phosphatase 2C-like (4);	0.112676	0.64402	N	0.000013	T	0.55561	0.1928	M	0.90759	3.145	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.72338	0.959;0.977	T	0.66015	-0.6028	10	0.72032	D	0.01	-3.8076	10.6168	0.45456	0.0:0.8525:0.0:0.1475	.	479;273	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	H	479;273	ENSP00000308926:R479H;ENSP00000353088:R273H	ENSP00000308926:R479H	R	-	2	0	PPM1J	113054390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.803000	0.55560	1.465000	0.48006	0.561000	0.74099	CGT		0.622	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		34	64	0	0	0	1	0	34	64				
CACNA1F	778	broad.mit.edu	37	X	49088176	49088176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:49088176G>A	ENST00000376265.2	-	2	300	c.239C>T	c.(238-240)cCt>cTt	p.P80L	CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P80L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	80					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGTCGCAGAGGATTGGCCAG	0.602																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(238-240)cCt>cTt		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						100.0	77.0	85.0					X																	49088176		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49088176G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.239C>T	X.37:g.49088176G>A	ENSP00000365441:p.Pro80Leu					CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P80L	p.P80L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			2	300	-			80					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.239C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187457	0.57909	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	T;T	0.51071	0.72;0.72	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.64736	-0.6337	9	.	.	.	.	16.5112	0.84286	0.0:0.0:1.0:0.0	.	80;80	F5CIQ9;O60840	.;CAC1F_HUMAN	L	80	ENSP00000321618:P80L;ENSP00000365441:P80L	.	P	-	2	0	CACNA1F	48975120	1.000000	0.71417	0.920000	0.36463	0.746000	0.42486	9.489000	0.97949	2.155000	0.67459	0.436000	0.28706	CCT		0.602	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		13	39	0	0	0	1	0	13	39				
OVCA2	124641	broad.mit.edu	37	17	1946242	1946242	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:1946242G>A	ENST00000572195.1	+	2	543	c.528G>A	c.(526-528)ggG>ggA	p.G176G	RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000570477.1_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	176					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										ATGTTTTTGGGGACACTGACA	0.547											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000572195.1																			0											c.(526-528)ggG>ggA		ovarian tumor suppressor candidate 2							97.0	98.0	98.0					17																	1946242		2203	4300	6503	SO:0001819	synonymous_variant	124641				response to retinoic acid	cytoplasm	hydrolase activity	g.chr17:1946242G>A	AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"""candidate tumor suppressor in ovarian cancer 2"""	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.528G>A	17.37:g.1946242G>A			OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	599	DPH1_ENST00000263083.6_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000570477.1_3'UTR	p.G176G	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN			2	543	+			176					Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	ENST00000572195.1	37	c.528G>A	CCDS11015.1																																																																																				0.547	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	NM_080822		30	46	0	0	0	1	0	30	46				
MUC5B	727897	broad.mit.edu	37	11	1268697	1268697	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:1268697C>T	ENST00000529681.1	+	31	10645	c.10587C>T	c.(10585-10587)acC>acT	p.T3529T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3532T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3529	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACGACCACCCCGGGCCACA	0.687																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10594-10596)acC>acT		mucin 5B, oligomeric mucus/gel-forming							69.0	97.0	88.0					11																	1268697		2071	4195	6266	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268697C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10587C>T	11.37:g.1268697C>T						MUC5B_ENST00000529681.1_Silent_p.T3529T|RP11-532E4.2_ENST00000532061.2_RNA	p.T3532T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10654	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3529	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10596C>T	CCDS44515.2																																																																																				0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		22	43	0	0	0	1	0	22	43				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			6	13	1	0	0.00116845	1	0.00119049	6	13				
MYOCD	93649	broad.mit.edu	37	17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A	rs531377746		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:12656007G>A	ENST00000343344.4	+	10	1402	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	AC005358.1_ENST00000609971.1_Missense_Mutation_p.A372T|MYOCD_ENST00000425538.1_Missense_Mutation_p.A468T|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	468	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A468T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627																																						ENST00000425538.1																			1	Substitution - Missense(1)	p.A468T(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1402-1404)Gct>Act		myocardin							73.0	69.0	71.0					17																	12656007		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656007G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1402G>A	17.37:g.12656007G>A	ENSP00000341835:p.Ala468Thr					MYOCD_ENST00000395988.1_Missense_Mutation_p.A372T|MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T	p.A468T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1602	+			468			Ser-rich.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1402G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	2.498	-0.315834	0.05422	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.43688	0.94;0.94	5.66	-1.8	0.07907	.	0.287999	0.41001	N	0.000978	T	0.23171	0.0560	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.12013	0.003;0.005;0.005;0.003	B;B;B;B	0.08055	0.001;0.002;0.003;0.001	T	0.12426	-1.0548	10	0.22109	T	0.4	-0.7432	5.8551	0.18714	0.5174:0.0:0.3524:0.1302	.	187;372;468;468	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	T	187;468;468;372;173	ENSP00000341835:A468T;ENSP00000400148:A173T	ENSP00000341835:A468T	A	+	1	0	MYOCD	12596732	0.991000	0.36638	0.000000	0.03702	0.378000	0.30076	3.173000	0.50839	-0.129000	0.11620	-0.229000	0.12294	GCT		0.627	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		23	44	0	0	0	1	0	23	44				
TTC3	7267	broad.mit.edu	37	21	38536430	38536430	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr21:38536430T>G	ENST00000399017.2	+	32	5995	c.3248T>G	c.(3247-3249)cTc>cGc	p.L1083R	TTC3_ENST00000355666.1_Missense_Mutation_p.L1083R|TTC3_ENST00000354749.2_Missense_Mutation_p.L1083R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1083					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCGAAGCTCTCTATGACCAA	0.398																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3247-3249)cTc>cGc		tetratricopeptide repeat domain 3							109.0	100.0	103.0					21																	38536430		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38536430T>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3248T>G	21.37:g.38536430T>G	ENSP00000381981:p.Leu1083Arg					TTC3_ENST00000355666.1_Missense_Mutation_p.L1083R|TTC3_ENST00000354749.2_Missense_Mutation_p.L1083R|TTC3_ENST00000479930.1_3'UTR	p.L1083R	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			32	5995	+		Myeloproliferative disorder(46;0.0412)	1083					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3248T>G	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.63|11.63	1.694624|1.694624	0.30052|0.30052	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.12361|.	2.7;2.69;3.02;3.02;3.02|.	4.92|4.92	3.74|3.74	0.42951|0.42951	.|.	0.608551|.	0.14366|.	N|.	0.324083|.	T|T	0.43010|0.43010	0.1228|0.1228	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	0.999994|0.999994	D;P|.	0.57571|.	0.98;0.938|.	P;P|.	0.55508|.	0.777;0.548|.	T|T	0.31558|0.31558	-0.9939|-0.9939	10|5	0.46703|.	T|.	0.11|.	-0.2596|-0.2596	6.3586|6.3586	0.21414|0.21414	0.1654:0.0:0.1544:0.6802|0.1654:0.0:0.1544:0.6802	.|.	141;1083|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	R|A	1083;1065;1083;1083;1083|239	ENSP00000403943:L1083R;ENSP00000391891:L1065R;ENSP00000347889:L1083R;ENSP00000381981:L1083R;ENSP00000346791:L1083R|.	ENSP00000346791:L1083R|.	L|S	+|+	2|1	0|0	TTC3|TTC3	37458300|37458300	0.131000|0.131000	0.22433|0.22433	0.321000|0.321000	0.25320|0.25320	0.900000|0.900000	0.52787|0.52787	1.917000|1.917000	0.39996|0.39996	0.798000|0.798000	0.33994|0.33994	0.482000|0.482000	0.46254|0.46254	CTC|TCT		0.398	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			15	56	0	0	0	1	0	15	56				
SLC35F3	148641	broad.mit.edu	37	1	234041367	234041367	+	Missense_Mutation	SNP	C	C	T	rs146928346		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:234041367C>T	ENST00000366618.3	+	2	291	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGGACGAGGCGATTAAGGAG	0.647																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(145-147)gCg>gTg		solute carrier family 35, member F3		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	59.0	63.0	61.0		146	5.0	1.0	1	dbSNP_134	61	0,8600		0,0,4300	no	missense	SLC35F3	NM_173508.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	49/491	234041367	1,13005	2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234041367C>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.146C>T	1.37:g.234041367C>T	ENSP00000355577:p.Ala49Val						p.A49V	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		2	291	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	0					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366618.3	37	c.146C>T	CCDS1600.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311446	0.95655	2.27E-4	0.0	ENSG00000183780	ENST00000366618	T	0.50813	0.73	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000015	T	0.60932	0.2307	.	.	.	0.80722	D	1	D	0.60160	0.987	P	0.53266	0.722	T	0.67360	-0.5690	9	0.87932	D	0	-12.6902	16.5018	0.84259	0.0:1.0:0.0:0.0	.	49	Q8IY50-2	.	V	49	ENSP00000355577:A49V	ENSP00000355577:A49V	A	+	2	0	SLC35F3	232107990	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	6.895000	0.75660	2.322000	0.78497	0.536000	0.68110	GCG		0.647	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	NM_173508		18	43	0	0	0	1	0	18	43				
GPR112	139378	broad.mit.edu	37	X	135405491	135405491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135405491G>A	ENST00000394143.1	+	5	916	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	GPR112_ENST00000287534.4_Missense_Mutation_p.E146K|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.E209K|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	209					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)					AGTTAGTTGGGAAGAAGACGT	0.438																																						ENST00000394143.1																			0				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						c.(625-627)Gaa>Aaa		G protein-coupled receptor 112							123.0	108.0	113.0					X																	135405491		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405491G>A	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.625G>A	X.37:g.135405491G>A	ENSP00000377699:p.Glu209Lys					GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.E209K|GPR112_ENST00000287534.4_Missense_Mutation_p.E146K	p.E209K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	916	+	Acute lymphoblastic leukemia(192;0.000127)		209					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.625G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401921	0.42613	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.62941	-0.01;-0.01;-0.01	5.48	4.62	0.57501	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.57873	0.2083	L	0.44542	1.39	0.21697	N	0.99959	P	0.41624	0.757	P	0.44772	0.46	T	0.52990	-0.8501	9	0.72032	D	0.01	.	7.5889	0.28008	0.1968:0.0:0.8032:0.0	.	209	Q8IZF6	GP112_HUMAN	K	209;209;146	ENSP00000377699:E209K;ENSP00000359686:E209K;ENSP00000287534:E146K	ENSP00000287534:E146K	E	+	1	0	GPR112	135233157	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.501000	0.35693	1.077000	0.40990	0.513000	0.50165	GAA		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			35	123	0	0	0	1	0	35	123				
COL17A1	1308	broad.mit.edu	37	10	105803313	105803313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:105803313C>T	ENST00000353479.5	-	35	2751	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G821S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	821	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGGCCTGGGACAGTG	0.572																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2461-2463)Ggc>Agc		collagen, type XVII, alpha 1							26.0	30.0	29.0					10																	105803313		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105803313C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2461G>A	10.37:g.105803313C>T	ENSP00000340937:p.Gly821Ser					COL17A1_ENST00000369733.3_Missense_Mutation_p.G821S	p.G821S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	35	2751	-		Colorectal(252;0.103)|Breast(234;0.122)	821			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2461G>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747040	0.89663	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.96913	-4.17;-4.17	5.77	5.77	0.91146	.	0.000000	0.47455	D	0.000225	D	0.98526	0.9508	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	-14.1779	17.4922	0.87707	0.0:1.0:0.0:0.0	.	821	Q9UMD9	COHA1_HUMAN	S	821	ENSP00000340937:G821S;ENSP00000358748:G821S	ENSP00000340937:G821S	G	-	1	0	COL17A1	105793303	0.999000	0.42202	1.000000	0.80357	0.764000	0.43329	5.218000	0.65257	2.724000	0.93272	0.561000	0.74099	GGC		0.572	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		20	7	0	0	0	1	0	20	7				
CEMIP	57214	broad.mit.edu	37	15	81181824	81181824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:81181824C>T	ENST00000394685.3	+	10	1396	c.977C>T	c.(976-978)aCg>aTg	p.T326M	KIAA1199_ENST00000356249.5_Missense_Mutation_p.T326M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.T326M			Q8WUJ3	CEMIP_HUMAN		326	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.T326M(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGGAGTGGACGGAGTGGTTC	0.483																																						ENST00000394685.3																			1	Substitution - Missense(1)	p.T326M(1)	lung(1)	breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(976-978)aCg>aTg		KIAA1199							137.0	115.0	123.0					15																	81181824		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81181824C>T																												ENST00000394685.3:c.977C>T	15.37:g.81181824C>T	ENSP00000378177:p.Thr326Met					KIAA1199_ENST00000220244.3_Missense_Mutation_p.T326M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T326M	p.T326M			Q8WUJ3	K1199_HUMAN			10	1396	+			326					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.977C>T	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259818	0.80246	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.27557	1.66;1.66;1.66	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.86502	2.82	0.52501	D	0.999958	D	0.89917	1.0	D	0.78314	0.991	T	0.61431	-0.7064	10	0.33940	T	0.23	-20.6437	20.1381	0.98040	0.0:1.0:0.0:0.0	.	326	Q8WUJ3	K1199_HUMAN	M	326	ENSP00000220244:T326M;ENSP00000378177:T326M;ENSP00000348583:T326M	ENSP00000220244:T326M	T	+	2	0	KIAA1199	78968879	1.000000	0.71417	0.971000	0.41717	0.730000	0.41778	6.019000	0.70818	2.763000	0.94921	0.650000	0.86243	ACG		0.483	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			23	47	0	0	0	1	0	23	47				
PCDH11X	27328	broad.mit.edu	37	X	91090535	91090535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91090535C>T	ENST00000373094.1	+	1	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	11					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACATTTTCGCGGTCCTGCTA	0.493																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(31-33)gCg>gTg		protocadherin 11 X-linked							132.0	105.0	114.0					X																	91090535		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090535C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.32C>T	X.37:g.91090535C>T	ENSP00000362186:p.Ala11Val					PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V	p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	877	+			11					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.32C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387562	0.25031	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51071	0.73;0.76;0.77;0.72;0.78;0.77;0.75;0.78;0.78	3.93	3.93	0.45458	.	0.251193	0.32769	N	0.005671	T	0.38134	0.1029	L	0.29908	0.895	0.30046	N	0.812228	P;B;P;P;P;P;B;P	0.44139	0.703;0.296;0.827;0.827;0.827;0.735;0.28;0.526	B;B;B;B;B;B;B;B	0.43155	0.168;0.055;0.41;0.41;0.41;0.233;0.047;0.047	T	0.30621	-0.9972	10	0.23891	T	0.37	.	14.4725	0.67526	0.0:1.0:0.0:0.0	.	11;11;11;11;11;11;11;11	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	11	ENSP00000378746:A11V;ENSP00000362186:A11V;ENSP00000362189:A11V;ENSP00000355040:A11V;ENSP00000362180:A11V;ENSP00000423762:A11V;ENSP00000355105:A11V;ENSP00000384758:A11V;ENSP00000298274:A11V	ENSP00000298274:A11V	A	+	2	0	PCDH11X	90977191	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.861000	0.56002	1.935000	0.56089	0.415000	0.27848	GCG		0.493	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	93	0	0	0	1	0	4	93				
EPG5	57724	broad.mit.edu	37	18	43496145	43496145	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:43496145G>A	ENST00000282041.5	-	19	3445	c.3411C>T	c.(3409-3411)ccC>ccT	p.P1137P	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1137					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCACTTCATTGGGCTGAGTGC	0.473																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(3409-3411)ccC>ccT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							62.0	61.0	61.0					18																	43496145		1911	4122	6033	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43496145G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3411C>T	18.37:g.43496145G>A						EPG5_ENST00000585906.1_5'UTR	p.P1137P	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			19	3445	-			1137					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.3411C>T	CCDS11926.2																																																																																				0.473	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	32	0	0	0	1	0	9	32				
CUL1	8454	broad.mit.edu	37	7	148451085	148451085	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:148451085G>A	ENST00000325222.4	+	3	437	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	CUL1_ENST00000602748.1_Missense_Mutation_p.C53Y|CUL1_ENST00000409469.1_Missense_Mutation_p.C53Y	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	53					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TATAACTACTGTACTAGTGTT	0.403																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(157-159)tGt>tAt		cullin 1							54.0	51.0	52.0					7																	148451085		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148451085G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.158G>A	7.37:g.148451085G>A	ENSP00000326804:p.Cys53Tyr					CUL1_ENST00000409469.1_Missense_Mutation_p.C53Y|CUL1_ENST00000602748.1_Missense_Mutation_p.C53Y	p.C53Y	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		3	437	+	Melanoma(164;0.15)		53					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.158G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447354	0.84101	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583	T;T	0.38401	1.14;1.14	4.74	4.74	0.60224	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83659	0.0160	10	0.87932	D	0	-14.242	17.7333	0.88384	0.0:0.0:1.0:0.0	.	53	Q13616	CUL1_HUMAN	Y	53;53;11	ENSP00000387160:C53Y;ENSP00000326804:C53Y	ENSP00000326804:C53Y	C	+	2	0	CUL1	148082018	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.552000	0.98115	2.195000	0.70347	0.508000	0.49915	TGT		0.403	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		12	22	0	0	0	1	0	12	22				
SLCO3A1	28232	broad.mit.edu	37	15	92706193	92706193	+	Missense_Mutation	SNP	G	G	A	rs199572762		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:92706193G>A	ENST00000318445.6	+	10	2175	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	RP11-24J19.1_ENST00000557683.1_RNA|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R654H	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	654					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R654H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AACTATAAACGCTACATCAAA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18120	0.001		0.0	False		,,,				2504	0.0					ENST00000318445.6																			1	Substitution - Missense(1)	p.R654H(1)	pancreas(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1960-1962)cGc>cAc		solute carrier organic anion transporter family, member 3A1							94.0	77.0	83.0					15																	92706193		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92706193G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1961G>A	15.37:g.92706193G>A	ENSP00000320634:p.Arg654His					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R654H|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|RP11-152L20.3_ENST00000561674.1_RNA	p.R654H	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		10	2175	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		654					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1961G>A	CCDS10371.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.04	3.749527	0.69533	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.39056	1.1;1.13	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);	0.482456	0.23575	N	0.046703	T	0.34135	0.0887	N	0.14661	0.345	0.45464	D	0.99843	D;D	0.57571	0.98;0.964	P;B	0.48598	0.583;0.385	T	0.13098	-1.0522	10	0.46703	T	0.11	.	13.5418	0.61679	0.0744:0.0:0.9256:0.0	.	654;654	Q9UIG8-2;Q9UIG8	.;SO3A1_HUMAN	H	654;654;373	ENSP00000320634:R654H;ENSP00000387846:R654H	ENSP00000320634:R654H	R	+	2	0	SLCO3A1	90507197	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.858000	0.62947	2.538000	0.85594	0.655000	0.94253	CGC		0.547	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		26	36	0	0	0	1	0	26	36				
HRH1	3269	broad.mit.edu	37	3	11301013	11301013	+	Missense_Mutation	SNP	G	G	A	rs139664451	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:11301013G>A	ENST00000397056.1	+	3	481	c.290G>A	c.(289-291)cGt>cAt	p.R97H	HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	97					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCACTGGGCCGTCCTCTCTGC	0.552																																						ENST00000397056.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(289-291)cGt>cAt		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	195.0	182.0	186.0		290,290,290,290	2.2	0.6	3	dbSNP_134	186	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	HRH1	NM_000861.3,NM_001098211.1,NM_001098212.1,NM_001098213.1	29,29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign	97/488,97/488,97/488,97/488	11301013	2,13004	2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301013G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.290G>A	3.37:g.11301013G>A	ENSP00000380247:p.Arg97His					HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	481	+			97					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.290G>A	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693340	0.30052	2.27E-4	1.16E-4	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.73047	-0.71;-0.71;-0.71	5.87	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.346611	0.28606	N	0.014755	T	0.57888	0.2084	L	0.58302	1.8	0.09310	N	1	P	0.35551	0.509	B	0.30401	0.115	T	0.45056	-0.9287	10	0.28530	T	0.3	-11.8412	6.106	0.20073	0.2733:0.0:0.5977:0.129	.	97	P35367	HRH1_HUMAN	H	97	ENSP00000406705:R97H;ENSP00000397028:R97H;ENSP00000380247:R97H	ENSP00000380247:R97H	R	+	2	0	HRH1	11276013	0.004000	0.15560	0.592000	0.28758	0.835000	0.47333	1.521000	0.35910	0.409000	0.25649	0.655000	0.94253	CGT		0.552	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			88	103	0	0	0	1	0	88	103				
SECISBP2	79048	broad.mit.edu	37	9	91954798	91954798	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr9:91954798A>G	ENST00000375807.3	+	9	1303	c.1232A>G	c.(1231-1233)aAc>aGc	p.N411S	SECISBP2_ENST00000534113.2_Missense_Mutation_p.N343S|SECISBP2_ENST00000339901.4_Missense_Mutation_p.N338S	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	411					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GAATTTCCCAACCTGGCAGTT	0.398																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1231-1233)aAc>aGc		SECIS binding protein 2							108.0	109.0	109.0					9																	91954798		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91954798A>G	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1232A>G	9.37:g.91954798A>G	ENSP00000364965:p.Asn411Ser					SECISBP2_ENST00000534113.2_Missense_Mutation_p.N343S|SECISBP2_ENST00000339901.4_Missense_Mutation_p.N338S	p.N411S	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			9	1303	+			411					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.1232A>G	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.526645	0.64860	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.74002	-0.79;-0.8;-0.79;0.83	4.94	3.78	0.43462	.	0.302918	0.32190	N	0.006453	T	0.75664	0.3880	L	0.60455	1.87	0.26225	N	0.979108	D;D;D	0.56521	0.976;0.961;0.976	P;P;P	0.52066	0.609;0.689;0.609	T	0.66984	-0.5785	10	0.36615	T	0.2	-11.6213	10.7885	0.46419	0.8578:0.0:0.0:0.1422	.	418;338;411	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	S	411;417;338;343;208	ENSP00000364965:N411S;ENSP00000364959:N338S;ENSP00000436650:N343S;ENSP00000414288:N208S	ENSP00000364959:N338S	N	+	2	0	SECISBP2	91144618	0.359000	0.24955	0.997000	0.53966	0.980000	0.70556	0.544000	0.23253	0.888000	0.36160	0.533000	0.62120	AAC		0.398	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		12	78	0	0	0	1	0	12	78				
OCRL	4952	broad.mit.edu	37	X	128692669	128692669	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:128692669C>A	ENST00000371113.4	+	7	664	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.Q167K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	167					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATAAATTCACAAAATCAGCC	0.393																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(499-501)Caa>Aaa		oculocerebrorenal syndrome of Lowe							71.0	67.0	68.0					X																	128692669		2203	4299	6502	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128692669C>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.499C>A	X.37:g.128692669C>A	ENSP00000360154:p.Gln167Lys					OCRL_ENST00000357121.5_Missense_Mutation_p.Q167K|OCRL_ENST00000486673.1_3'UTR	p.Q167K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			7	664	+			167					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.499C>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521359	0.64747	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94000	-3.33;-3.33	5.68	5.68	0.88126	.	0.318671	0.34531	N	0.003896	D	0.89332	0.6685	L	0.32530	0.975	0.50171	D	0.999851	P;B	0.41848	0.763;0.349	B;B	0.36608	0.229;0.108	D	0.89566	0.3810	10	0.44086	T	0.13	.	17.6559	0.88177	0.0:1.0:0.0:0.0	.	167;167	Q01968-2;Q01968	.;OCRL_HUMAN	K	167	ENSP00000360154:Q167K;ENSP00000349635:Q167K	ENSP00000349635:Q167K	Q	+	1	0	OCRL	128520350	1.000000	0.71417	0.469000	0.27204	0.971000	0.66376	5.563000	0.67352	2.387000	0.81309	0.594000	0.82650	CAA		0.393	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		3	71	1	0	0.004672	1	0.00471566	3	71				
OR51A4	401666	broad.mit.edu	37	11	4967723	4967723	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:4967723A>G	ENST00000380373.2	-	1	633	c.608T>C	c.(607-609)tTt>tCt	p.F203S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTGCTCCAAAAAAGCCATA	0.418																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(607-609)tTt>tCt		olfactory receptor, family 51, subfamily A, member 4							49.0	46.0	47.0					11																	4967723		2200	4285	6485	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967723A>G	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.608T>C	11.37:g.4967723A>G	ENSP00000369731:p.Phe203Ser					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.F203S	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	633	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	203						Missense_Mutation	SNP	ENST00000380373.2	37	c.608T>C	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	A	6.339	0.430637	0.12045	.	.	ENSG00000205497	ENST00000380373	T	0.72505	-0.66	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75547	0.3864	L	0.52364	1.645	0.09310	N	1	D	0.57257	0.979	D	0.65010	0.931	T	0.61917	-0.6964	9	0.44086	T	0.13	.	7.0325	0.24975	0.8867:0.0:0.1133:0.0	.	203	Q8NGJ6	O51A4_HUMAN	S	203	ENSP00000369731:F203S	ENSP00000369731:F203S	F	-	2	0	OR51A4	4924299	0.001000	0.12720	0.020000	0.16555	0.071000	0.16799	0.951000	0.29135	1.571000	0.49722	0.392000	0.25879	TTT		0.418	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		23	56	0	0	0	1	0	23	56				
ABCA4	24	broad.mit.edu	37	1	94486867	94486867	+	Silent	SNP	G	G	A	rs61750159		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:94486867G>A	ENST00000370225.3	-	35	5033	c.4947C>T	c.(4945-4947)ccC>ccT	p.P1649P	ABCA4_ENST00000536513.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1649					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)		CATACTCCTCGGGGCTCCTGT	0.557																																						ENST00000370225.3																			0				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	GRCh37	CD971957	ABCA4	D		c.(4945-4947)ccC>ccT		ATP-binding cassette, sub-family A (ABC1), member 4							160.0	155.0	157.0					1																	94486867		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94486867G>A	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.4947C>T	1.37:g.94486867G>A							p.P1649P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	35	5033	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1649					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.4947C>T	CCDS747.1																																																																																				0.557	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		47	84	0	0	0	1	0	47	84				
OR14C36	127066	broad.mit.edu	37	1	248512354	248512354	+	Missense_Mutation	SNP	C	C	T	rs145207343		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:248512354C>T	ENST00000317861.1	+	1	278	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A93E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTCTAAGGCGGGATGTGTA	0.473																																						ENST00000317861.1																			1	Substitution - Missense(1)	p.A93E(1)	lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(277-279)gCg>gTg		olfactory receptor, family 14, subfamily C, member 36		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	105.0	91.0	96.0		278	-1.1	0.0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR14C36	NM_001001918.1	64	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	93/313	248512354	3,13003	2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512354C>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.278C>T	1.37:g.248512354C>T	ENSP00000324534:p.Ala93Val						p.A93V	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	278	+			93					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.278C>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913156	0.33815	4.54E-4	1.16E-4	ENSG00000177174	ENST00000317861	T	0.03212	4.01	3.9	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	1.156850	0.06760	N	0.781614	T	0.02418	0.0074	L	0.31526	0.94	0.09310	N	1	B	0.31859	0.343	B	0.21546	0.035	T	0.46735	-0.9170	10	0.25106	T	0.35	.	2.7427	0.05258	0.1175:0.4615:0.2007:0.2202	.	93	Q8NHC7	O14CZ_HUMAN	V	93	ENSP00000324534:A93V	ENSP00000324534:A93V	A	+	2	0	OR14C36	246578977	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-1.313000	0.02718	0.184000	0.20083	0.395000	0.25975	GCG		0.473	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		21	29	0	0	0	1	0	21	29				
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.R252C(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(754-756)Cgc>Tgc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						181.0	144.0	157.0					7																	55221710		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221710C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.754C>T	7.37:g.55221710C>T	ENSP00000275493:p.Arg252Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C	p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	931	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		252					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.754C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045674	0.55110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.95101	0.8413	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	P;P;D;D;D	0.71656	0.893;0.907;0.974;0.923;0.945	D	0.95378	0.8470	10	0.59425	D	0.04	.	18.6435	0.91402	0.0:1.0:0.0:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207C;ENSP00000342376:R252C;ENSP00000345973:R252C;ENSP00000413843:R252C;ENSP00000275493:R252C;ENSP00000410031:R252C;ENSP00000395243:R199C	ENSP00000275493:R252C	R	+	1	0	EGFR	55189204	1.000000	0.71417	0.985000	0.45067	0.150000	0.21749	3.793000	0.55484	2.752000	0.94435	0.467000	0.42956	CGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		40	140	0	0	0	1	0	40	140				
YME1L1	10730	broad.mit.edu	37	10	27411836	27411836	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:27411836C>A	ENST00000326799.3	-	12	1488	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	YME1L1_ENST00000376016.3_Missense_Mutation_p.R390I|YME1L1_ENST00000375972.3_Missense_Mutation_p.R357I|YME1L1_ENST00000463270.1_5'Flank	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	447					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R447I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATTCAATTCTCTTCCCACC	0.348																																						ENST00000326799.3																			1	Substitution - Missense(1)	p.R447I(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1339-1341)aGa>aTa		YME1-like 1 ATPase							133.0	122.0	126.0					10																	27411836		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27411836C>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1340G>T	10.37:g.27411836C>A	ENSP00000318480:p.Arg447Ile					YME1L1_ENST00000376016.3_Missense_Mutation_p.R390I|YME1L1_ENST00000375972.3_Missense_Mutation_p.R357I	p.R447I	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			12	1488	-			447					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.1340G>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438936	0.96168	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	T;T;T	0.79352	-1.26;-1.26;-1.26	5.49	5.49	0.81192	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.94761	0.7936	10	0.87932	D	0	-15.5278	19.371	0.94484	0.0:1.0:0.0:0.0	.	357;390;447	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	I	390;447;447;357;193	ENSP00000365184:R390I;ENSP00000318480:R447I;ENSP00000365139:R357I	ENSP00000318480:R447I	R	-	2	0	YME1L1	27451842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.802000	0.85969	2.586000	0.87340	0.650000	0.86243	AGA		0.348	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		29	22	1	0	5.77227e-19	1	6.23405e-19	29	22				
PLCG1	5335	broad.mit.edu	37	20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:39802384G>A	ENST00000373271.1	+	29	3892	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_ENST00000373272.2_Missense_Mutation_p.E1163K|PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K|PLCG1_ENST00000608689.1_3'UTR	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1163	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(3487-3489)Gag>Aag		phospholipase C, gamma 1							130.0	113.0	118.0					20																	39802384		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39802384G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3487G>A	20.37:g.39802384G>A	ENSP00000362368:p.Glu1163Lys		OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	888	PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.E1163K	p.E1163K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			29	3892	+		Myeloproliferative disorder(115;0.00878)	1163			C2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3487G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494412	0.96339	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.69685	-0.42;-0.42;-0.42	5.51	5.51	0.81932	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	M	0.84082	2.675	0.80722	D	1	P;D;D	0.57257	0.946;0.979;0.957	P;P;P	0.62298	0.839;0.9;0.9	D	0.84894	0.0838	10	0.72032	D	0.01	.	19.4219	0.94725	0.0:0.0:1.0:0.0	.	1163;1163;1163	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	K	1163	ENSP00000244007:E1163K;ENSP00000362368:E1163K;ENSP00000362369:E1163K	ENSP00000244007:E1163K	E	+	1	0	PLCG1	39235798	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.858000	0.99539	2.593000	0.87608	0.455000	0.32223	GAG		0.517	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		12	106	0	0	0	1	0	12	106				
C10orf71	118461	broad.mit.edu	37	10	50531225	50531225	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:50531225C>T	ENST00000374144.3	+	3	923	c.635C>T	c.(634-636)cCa>cTa	p.P212L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P212L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	212										endometrium(1)	1						AGCTACCAGCCAGGCAGGAAG	0.547																																						ENST00000374144.3																			0				endometrium(1)	1						c.(634-636)cCa>cTa		chromosome 10 open reading frame 71							37.0	39.0	38.0					10																	50531225		2005	4165	6170	SO:0001583	missense	118461							g.chr10:50531225C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.635C>T	10.37:g.50531225C>T	ENSP00000363259:p.Pro212Leu					C10orf71_ENST00000323868.4_Missense_Mutation_p.P212L	p.P212L			Q711Q0	CJ071_HUMAN			3	923	+			212					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.635C>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555760	0.45487	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14391	2.51;3.63	5.4	4.47	0.54385	.	0.280220	0.25566	N	0.029798	T	0.10981	0.0268	L	0.59436	1.845	0.09310	N	1	B	0.32753	0.383	B	0.28849	0.095	T	0.24657	-1.0154	10	0.21014	T	0.42	.	3.5465	0.07831	0.3062:0.462:0.1483:0.0835	.	212	Q711Q0-3	.	L	212	ENSP00000318713:P212L;ENSP00000363259:P212L	ENSP00000318713:P212L	P	+	2	0	C10orf71	50201231	0.015000	0.18098	0.273000	0.24645	0.823000	0.46562	2.437000	0.44828	1.235000	0.43724	0.561000	0.74099	CCA		0.547	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		5	10	0	0	0	1	0	5	10				
STAT6	6778	broad.mit.edu	37	12	57501513	57501513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:57501513C>T	ENST00000300134.3	-	3	455	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	STAT6_ENST00000556155.1_Missense_Mutation_p.G44S|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000543873.2_Missense_Mutation_p.G44S|STAT6_ENST00000454075.3_Missense_Mutation_p.G44S|STAT6_ENST00000537215.2_5'UTR	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	44					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G44S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCGTCGGAGCCGACCAGGAAC	0.602																																						ENST00000300134.3																			1	Substitution - Missense(1)	p.G44S(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(130-132)Ggc>Agc		signal transducer and activator of transcription 6, interleukin-4 induced							68.0	58.0	61.0					12																	57501513		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57501513C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.130G>A	12.37:g.57501513C>T	ENSP00000300134:p.Gly44Ser					STAT6_ENST00000556155.1_Missense_Mutation_p.G44S|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000454075.3_Missense_Mutation_p.G44S|STAT6_ENST00000543873.2_Missense_Mutation_p.G44S|STAT6_ENST00000537215.2_5'UTR	p.G44S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			3	455	-			44					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.130G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.327093	0.24080	.	.	ENSG00000166888	ENST00000300134;ENST00000543873;ENST00000556155;ENST00000454075;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397;ENST00000554663;ENST00000554825;ENST00000557635;ENST00000553275	T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.98	4.09	0.47781	STAT transcription factor, protein interaction (4);	0.230546	0.35067	N	0.003462	T	0.34629	0.0904	L	0.43152	1.355	0.80722	D	1	B;B	0.22746	0.074;0.008	B;B	0.21546	0.035;0.013	T	0.08680	-1.0710	10	0.10377	T	0.69	-14.2011	8.9385	0.35715	0.0:0.9007:0.0:0.0993	.	44;44	A8K4S9;P42226	.;STAT6_HUMAN	S	44	ENSP00000300134:G44S;ENSP00000438451:G44S;ENSP00000451742:G44S;ENSP00000401486:G44S;ENSP00000452394:G44S;ENSP00000452373:G44S;ENSP00000451074:G44S;ENSP00000452203:G44S;ENSP00000450665:G44S;ENSP00000451209:G44S;ENSP00000450747:G44S;ENSP00000450732:G44S	ENSP00000300134:G44S	G	-	1	0	STAT6	55787780	0.148000	0.22702	0.964000	0.40570	0.658000	0.38924	0.281000	0.18810	1.323000	0.45263	0.655000	0.94253	GGC		0.602	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		11	29	0	0	0	1	0	11	29				
USE1	55850	broad.mit.edu	37	19	17327047	17327047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:17327047G>A	ENST00000263897.5	+	4	348	c.301G>A	c.(301-303)Gag>Aag	p.E101K	USE1_ENST00000445667.2_Missense_Mutation_p.E101K|USE1_ENST00000595101.1_Missense_Mutation_p.E101K|USE1_ENST00000379776.4_Missense_Mutation_p.E101K|USE1_ENST00000596136.1_Missense_Mutation_p.E101K	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	101					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						CACAGCCAGAGAGCGAGTGCC	0.607																																						ENST00000595101.1																			0				breast(2)|endometrium(1)|lung(3)	6						c.(301-303)Gag>Aag		unconventional SNARE in the ER 1 homolog (S. cerevisiae)							37.0	42.0	41.0					19																	17327047		2009	4173	6182	SO:0001583	missense	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17327047G>A	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.301G>A	19.37:g.17327047G>A	ENSP00000263897:p.Glu101Lys					USE1_ENST00000445667.2_Missense_Mutation_p.E101K|USE1_ENST00000263897.5_Missense_Mutation_p.E101K|USE1_ENST00000379776.4_Missense_Mutation_p.E101K|USE1_ENST00000596136.1_Missense_Mutation_p.E101K	p.E101K			Q9NZ43	USE1_HUMAN			4	319	+			101					Q8NCK1|Q9BRT4	Missense_Mutation	SNP	ENST00000263897.5	37	c.301G>A	CCDS46011.1	.	.	.	.	.	.	.	.	.	.	G	35	5.575975	0.96553	.	.	ENSG00000053501	ENST00000263897;ENST00000445667;ENST00000379776	T;T;T	0.46451	0.87;0.87;0.87	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.53249	1.67	0.80722	D	1	D;D;D	0.57571	0.98;0.964;0.974	P;P;P	0.57846	0.736;0.828;0.736	T	0.44937	-0.9295	10	0.06757	T	0.87	-31.3934	17.0769	0.86589	0.0:0.0:1.0:0.0	.	101;101;101	Q9NZ43-2;Q9NZ43;Q9NZ43-3	.;USE1_HUMAN;.	K	101	ENSP00000263897:E101K;ENSP00000390287:E101K;ENSP00000369101:E101K	ENSP00000263897:E101K	E	+	1	0	USE1	17188047	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.416000	0.97383	2.275000	0.75901	0.561000	0.74099	GAG		0.607	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467		16	20	0	0	0	1	0	16	20				
GPRASP1	9737	broad.mit.edu	37	X	101909474	101909474	+	Silent	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:101909474A>G	ENST00000361600.5	+	5	1434	c.633A>G	c.(631-633)gcA>gcG	p.A211A	GPRASP1_ENST00000537097.1_Silent_p.A211A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.A211A|GPRASP1_ENST00000444152.1_Silent_p.A211A	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	211					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTCACTGCAAAATTTCATC	0.443																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(631-633)gcA>gcG		G protein-coupled receptor associated sorting protein 1							143.0	147.0	145.0					X																	101909474		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101909474A>G	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.633A>G	X.37:g.101909474A>G						GPRASP1_ENST00000444152.1_Silent_p.A211A|GPRASP1_ENST00000361600.5_Silent_p.A211A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.A211A	p.A211A	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	1446	+			211					O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.633A>G	CCDS35352.1																																																																																				0.443	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		13	254	0	0	0	1	0	13	254				
NBPF22P	285622	broad.mit.edu	37	5	85578422	85578422	+	RNA	SNP	C	C	T	rs187395942	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr5:85578422C>T	ENST00000590707.1	+	0	145					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		AGTGTTGTGACGTGTTCATCA	0.418													c|||	3	0.000599042	0.0	0.0	5008	,	,		21820	0.003		0.0	False		,,,				2504	0.0					ENST00000590707.1																			0																																																			0							g.chr5:85578422C>T	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85578422C>T								NR_003719.2						0	145	+									RNA	SNP	ENST00000590707.1	37																																																																																						0.418	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1	XM_208333		3	2	0	0	0	1	0	3	2				
KLK15	55554	broad.mit.edu	37	19	51330300	51330300	+	Silent	SNP	G	G	A	rs369380000		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51330300G>A	ENST00000598239.1	-	3	345	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KLK15_ENST00000416184.1_Silent_p.N105N|KLK15_ENST00000301421.2_Silent_p.N105N|KLK15_ENST00000596931.1_Silent_p.N104N|KLK15_ENST00000326856.4_Silent_p.N104N	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(310-312)aaC>aaT		kallikrein-related peptidase 15							65.0	58.0	61.0					19																	51330300		2202	4299	6501	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330300G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.315C>T	19.37:g.51330300G>A						KLK15_ENST00000598239.1_Silent_p.N105N|KLK15_ENST00000416184.1_Silent_p.N105N|KLK15_ENST00000596931.1_Silent_p.N104N|KLK15_ENST00000301421.2_Silent_p.N105N	p.N104N	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	441	-		all_neural(266;0.057)	105			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.312C>T	CCDS12805.1																																																																																				0.687	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		36	43	0	0	0	1	0	36	43				
SLC35F1	222553	broad.mit.edu	37	6	118635328	118635328	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:118635328A>C	ENST00000360388.4	+	8	1341	c.1140A>C	c.(1138-1140)ttA>ttC	p.L380F		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	380					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGTGGACTTACCGACCACAG	0.597																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1138-1140)ttA>ttC		solute carrier family 35, member F1							137.0	119.0	125.0					6																	118635328		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118635328A>C	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1140A>C	6.37:g.118635328A>C	ENSP00000353557:p.Leu380Phe						p.L380F	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1341	+			380					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.1140A>C	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574132	0.45902	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.56	-2.26	0.06867	.	0.272209	0.31188	N	0.008087	T	0.15869	0.0382	N	0.22421	0.69	0.38718	D	0.953384	P	0.43169	0.8	B	0.40038	0.317	T	0.12091	-1.0561	9	0.09843	T	0.71	.	13.2225	0.59896	0.4164:0.0:0.5836:0.0	.	380	Q5T1Q4	S35F1_HUMAN	F	380	.	ENSP00000353557:L380F	L	+	3	2	SLC35F1	118742021	0.995000	0.38212	0.838000	0.33150	0.307000	0.27823	0.350000	0.20079	-0.382000	0.07870	-0.899000	0.02877	TTA		0.597	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		30	54	0	0	0	1	0	30	54				
BTK	695	broad.mit.edu	37	X	100613413	100613413	+	Silent	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:100613413C>A	ENST00000308731.7	-	12	1150	c.987G>T	c.(985-987)ggG>ggT	p.G329G	BTK_ENST00000372880.1_Silent_p.G329G	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	329	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACGTATCACCCCTTGAGGGT	0.473									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(985-987)ggG>ggT		Bruton agammaglobulinemia tyrosine kinase							147.0	125.0	132.0					X																	100613413		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100613413C>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.987G>T	X.37:g.100613413C>A						BTK_ENST00000372880.1_Silent_p.G329G	p.G329G	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			12	1150	-			329			SH2.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.987G>T	CCDS14482.1																																																																																				0.473	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		42	67	1	0	1.59361e-14	1	1.68735e-14	42	67				
HACE1	57531	broad.mit.edu	37	6	105232863	105232863	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:105232863G>A	ENST00000262903.4	-	12	1682	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	HACE1_ENST00000517995.1_5'Flank|HACE1_ENST00000369125.2_Missense_Mutation_p.P469L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	469					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCTTACCCCGGAGGCATCTG	0.348																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(1405-1407)cCg>cTg		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							61.0	64.0	63.0					6																	105232863		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105232863G>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1406C>T	6.37:g.105232863G>A	ENSP00000262903:p.Pro469Leu					HACE1_ENST00000369125.2_Missense_Mutation_p.P469L	p.P469L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	12	1682	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	469					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.1406C>T	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241753	0.22711	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.35789	1.29;1.29	4.8	2.99	0.34606	.	0.275715	0.41823	D	0.000819	T	0.06050	0.0157	N	0.08118	0	0.47862	D	0.999533	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13764	-1.0497	10	0.25106	T	0.35	.	4.5034	0.11876	0.1844:0.0:0.5092:0.3063	.	469;469;122	E9PGP0;Q8IYU2;Q8IYU2-3	.;HACE1_HUMAN;.	L	469	ENSP00000262903:P469L;ENSP00000358121:P469L	ENSP00000262903:P469L	P	-	2	0	HACE1	105339556	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	3.506000	0.53364	1.158000	0.42547	-0.373000	0.07131	CCG		0.348	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		21	36	0	0	0	1	0	21	36				
SPANXN1	494118	broad.mit.edu	37	X	144337223	144337223	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:144337223C>T	ENST00000370493.3	+	2	867	c.108C>T	c.(106-108)ccC>ccT	p.P36P		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	36										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTAGCCCCCGAACCGAGTT	0.403																																						ENST00000370493.3																			0				endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(106-108)ccC>ccT		SPANX family, member N1							118.0	110.0	113.0					X																	144337223		2203	4297	6500	SO:0001819	synonymous_variant	494118							g.chrX:144337223C>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.108C>T	X.37:g.144337223C>T							p.P36P	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	867	+	Acute lymphoblastic leukemia(192;6.56e-05)		36						Silent	SNP	ENST00000370493.3	37	c.108C>T	CCDS35421.1																																																																																				0.403	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		35	52	0	0	0	1	0	35	52				
NDUFAF7	55471	broad.mit.edu	37	2	37468832	37468832	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:37468832G>T	ENST00000002125.4	+	5	560	c.520G>T	c.(520-522)Gtc>Ttc	p.V174F	NDUFAF7_ENST00000336237.6_Intron|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	174					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										TAAAGAGAAGGTCCCGTTAGA	0.423																																						ENST00000002125.4																			0											c.(520-522)Gtc>Ttc		NADH dehydrogenase (ubiquinone) complex I, assembly factor 7							106.0	93.0	97.0					2																	37468832		2203	4300	6503	SO:0001583	missense	55471							g.chr2:37468832G>T		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.520G>T	2.37:g.37468832G>T	ENSP00000002125:p.Val174Phe					NDUFAF7_ENST00000336237.6_Intron|NDUFAF7_ENST00000483999.1_3'UTR	p.V174F	NM_144736.4	NP_653337.1					5	560	+								Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.520G>T	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412318	0.42817	.	.	ENSG00000003509	ENST00000002125;ENST00000431821;ENST00000439218;ENST00000432075	T	0.45276	0.9	5.84	-2.08	0.07254	.	0.964221	0.08671	N	0.910970	T	0.48114	0.1482	M	0.70275	2.135	0.09310	N	1	B;B	0.26744	0.158;0.158	B;B	0.38921	0.285;0.285	T	0.54853	-0.8231	9	.	.	.	-0.3673	12.8983	0.58111	0.6084:0.0:0.3916:0.0	.	147;174	E7EUC2;Q7L592	.;MIDA_HUMAN	F	174;95;132;132	ENSP00000002125:V174F	.	V	+	1	0	C2orf56	37322336	0.000000	0.05858	0.056000	0.19401	0.941000	0.58515	-0.089000	0.11180	-0.496000	0.06650	0.655000	0.94253	GTC		0.423	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		13	25	1	0	2.62699e-14	1	2.75451e-14	13	25				
CXADRP3	440224	broad.mit.edu	37	18	14478282	14478282	+	lincRNA	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:14478282C>T	ENST00000581457.1	-	0	1626					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CTGAGGAGTGCGTTCAAAGTC	0.478																																						ENST00000581457.1																			0																																																			0							g.chr18:14478282C>T			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478282C>T								NR_024076.1						0	1626	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.478	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		11	31	0	0	0	1	0	11	31				
F8	2157	broad.mit.edu	37	X	154065952	154065952	+	Nonsense_Mutation	SNP	G	G	A	rs137852354		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:154065952G>A	ENST00000360256.4	-	26	7176	c.6976C>T	c.(6976-6978)Cga>Tga	p.R2326*	F8_ENST00000330287.6_Nonsense_Mutation_p.R191*	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2326	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.		R -> G (in HEMA). {ECO:0000269|PubMed:10404764}.|R -> L (in HEMA; severe/moderate; may cause reduced phospholipid binding). {ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:2105106, ECO:0000269|PubMed:2495245, ECO:0000269|PubMed:8644728}.|R -> P (in HEMA; severe sporadic). {ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:11748850}.|R -> Q (in HEMA; moderate/mild; may cause reduced phospholipid binding). {ECO:0000269|PubMed:10338101, ECO:0000269|PubMed:10910913, ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:3012775}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGTGAATTCGAAGGTAGCGA	0.527																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM850004|CM990566	F8	M	rs137852354	c.(6976-6978)Cga>Tga		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						77.0	65.0	69.0					X																	154065952		2203	4300	6503	SO:0001587	stop_gained	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154065952G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6976C>T	X.37:g.154065952G>A	ENSP00000353393:p.Arg2326*					F8_ENST00000330287.6_Nonsense_Mutation_p.R191*	p.R2326*	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			26	7176	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2326		R -> G (in HEMA).|R -> L (in HEMA; severe/moderate; may cause reduced phospholipid binding).|R -> P (in HEMA; severe sporadic).|R -> Q (in HEMA; moderate/mild; may cause reduced phospholipid binding).	F5/8 type C 2.		Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	c.6976C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	44	11.231222	0.99534	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	.	.	.	4.74	-3.6	0.04570	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3292	15.0009	0.71469	0.0:0.0:0.7468:0.2532	.	.	.	.	X	191;2326	.	ENSP00000327895:R191X	R	-	1	2	F8	153719146	0.002000	0.14202	0.003000	0.11579	0.082000	0.17680	-0.539000	0.06113	-1.214000	0.02614	-0.385000	0.06624	CGA		0.527	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			7	23	0	0	0	1	0	7	23				
AUTS2	26053	broad.mit.edu	37	7	70231260	70231260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:70231260C>A	ENST00000342771.4	+	9	1950	c.1629C>A	c.(1627-1629)ttC>ttA	p.F543L	AUTS2_ENST00000406775.2_Missense_Mutation_p.F543L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	543	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		agcacacCTTCACGCCGTTCC	0.657																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1627-1629)ttC>ttA		autism susceptibility candidate 2							285.0	263.0	271.0					7																	70231260		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70231260C>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1629C>A	7.37:g.70231260C>A	ENSP00000344087:p.Phe543Leu					AUTS2_ENST00000406775.2_Missense_Mutation_p.F543L	p.F543L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	9	1950	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	543			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1629C>A	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.09|16.09	3.025653|3.025653	0.54683|0.54683	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000406775;ENST00000342771|ENST00000443672	T;T|.	0.58506|.	0.33;0.33|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.189034|.	0.56097|.	D|.	0.000022|.	T|.	0.57695|.	0.2071|.	L|L	0.39147|0.39147	1.195|1.195	0.80722|0.80722	D|D	1|1	B;B|.	0.32781|.	0.384;0.384|.	B;B|.	0.31869|.	0.137;0.137|.	T|.	0.53479|.	-0.8433|.	9|.	.|.	.|.	.|.	-10.0799|-10.0799	12.8227|12.8227	0.57702|0.57702	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	543;543|.	Q8WXX7-2;Q8WXX7|.	.;AUTS2_HUMAN|.	L|X	543|85	ENSP00000385263:F543L;ENSP00000344087:F543L|.	.|.	F|S	+|+	3|2	2|0	AUTS2|AUTS2	69869196|69869196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.781000|3.781000	0.55394|0.55394	2.614000|2.614000	0.88457|0.88457	0.561000|0.561000	0.74099|0.74099	TTC|TCA		0.657	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			15	17	1	0	0.000422831	1	0.000434912	15	17				
KMT2C	58508	broad.mit.edu	37	7	151945288	151945288	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:151945288G>T	ENST00000262189.6	-	14	2449	c.2231C>A	c.(2230-2232)aCa>aAa	p.T744K	KMT2C_ENST00000355193.2_Missense_Mutation_p.T744K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	744					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCCTCAATTGTAGGAGTCAT	0.383																																						ENST00000355193.2																			0											c.(2230-2232)aCa>aAa		lysine (K)-specific methyltransferase 2C							79.0	77.0	78.0					7																	151945288		2203	4297	6500	SO:0001583	missense	58508							g.chr7:151945288G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2231C>A	7.37:g.151945288G>T	ENSP00000262189:p.Thr744Lys					KMT2C_ENST00000262189.6_Missense_Mutation_p.T744K	p.T744K							14	2449	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2231C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	5.208	0.223895	0.09863	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82619	-1.63;-1.63	5.53	2.67	0.31697	.	0.495520	0.16436	N	0.214489	T	0.64583	0.2611	N	0.08118	0	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.56306	-0.8001	10	0.52906	T	0.07	.	7.2629	0.26214	0.2123:0.1232:0.6645:0.0	.	744	Q8NEZ4	MLL3_HUMAN	K	744	ENSP00000262189:T744K;ENSP00000347325:T744K	ENSP00000262189:T744K	T	-	2	0	MLL3	151576221	0.086000	0.21541	0.106000	0.21319	0.494000	0.33585	1.793000	0.38764	0.713000	0.32060	-0.142000	0.14014	ACA		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	169	1	0	1.23904e-05	1	1.2867e-05	5	169				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	40	0	0	0	1	0	4	40				
NRD1	4898	broad.mit.edu	37	1	52301821	52301821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:52301821C>T	ENST00000354831.7	-	5	1087	c.898G>A	c.(898-900)Gca>Aca	p.A300T	NRD1_ENST00000544028.1_Missense_Mutation_p.A100T|NRD1_ENST00000485608.1_5'UTR|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000352171.7_Missense_Mutation_p.A232T|NRD1_ENST00000539524.1_Missense_Mutation_p.A168T	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	231					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAAAAGTGTGCCAGCCCCGGC	0.418																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(898-900)Gca>Aca		nardilysin (N-arginine dibasic convertase)							52.0	58.0	56.0					1																	52301821		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52301821C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.898G>A	1.37:g.52301821C>T	ENSP00000346890:p.Ala300Thr					NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.A100T|NRD1_ENST00000539524.1_Missense_Mutation_p.A168T|NRD1_ENST00000352171.7_Missense_Mutation_p.A232T	p.A300T	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			5	1087	-			231					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.898G>A	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938877	0.92526	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.59	4.68	0.58851	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.047868	0.85682	N	0.000000	T	0.69878	0.3160	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.79688	-0.1699	10	0.87932	D	0	-10.1549	14.3811	0.66911	0.0:0.9288:0.0:0.0712	.	232;231;300	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	T	232;300;168;232;100	ENSP00000262679:A232T;ENSP00000346890:A300T;ENSP00000444416:A168T;ENSP00000442262:A100T	ENSP00000262679:A232T	A	-	1	0	NRD1	52074409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.219000	0.78000	1.376000	0.46267	0.591000	0.81541	GCA		0.418	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		3	32	0	0	0	1	0	3	32				
STAG3	10734	broad.mit.edu	37	7	99795727	99795727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:99795727G>A	ENST00000426455.1	+	12	1589	c.1182G>A	c.(1180-1182)atG>atA	p.M394I	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.M336I|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.M394I	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	394	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTTCCATGGTCATGGACA	0.463																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(1180-1182)atG>atA		stromal antigen 3							193.0	174.0	180.0					7																	99795727		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99795727G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1182G>A	7.37:g.99795727G>A	ENSP00000400359:p.Met394Ile					STAG3_ENST00000394018.2_Missense_Mutation_p.M336I|STAG3_ENST00000317296.5_Missense_Mutation_p.M394I|STAG3_ENST00000440830.1_3'UTR	p.M394I			Q9UJ98	STAG3_HUMAN			12	1589	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394			SCD.		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1182G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	29.6	5.016751	0.93404	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.31510	1.49;1.49;1.49	5.76	4.88	0.63580	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.53238	0.1784	M	0.71871	2.18	0.58432	D	0.999999	P;P	0.50943	0.93;0.94	P;D	0.64506	0.566;0.926	T	0.57894	-0.7732	10	0.87932	D	0	-19.7636	14.2216	0.65830	0.0:0.0:0.8494:0.1506	.	336;394	B4DZ10;Q9UJ98	.;STAG3_HUMAN	I	394;336;352;394	ENSP00000400359:M394I;ENSP00000377586:M336I;ENSP00000319318:M394I	ENSP00000319318:M394I	M	+	3	0	STAG3	99633663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.581000	0.98210	1.549000	0.49425	0.650000	0.86243	ATG		0.463	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		22	49	0	0	0	1	0	22	49				
NUDT7	283927	broad.mit.edu	37	16	77775636	77775636	+	Missense_Mutation	SNP	G	G	A	rs35294368|rs370570737		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:77775636G>A	ENST00000268533.5	+	4	575	c.506G>A	c.(505-507)cGt>cAt	p.R169H	RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000437314.3_Missense_Mutation_p.R116H|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	169	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CTTGGTCACCGTTTTATTAAT	0.473																																						ENST00000268533.5																			0				breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						c.(505-507)cGt>cAt		nudix (nucleoside diphosphate linked moiety X)-type motif 7		G	HIS/ARG	1,3895		0,1,1947	110.0	102.0	105.0		506	-10.8	0.0	16		105	1,8293		0,1,4146	no	missense	NUDT7	NM_001105663.2	29	0,2,6093	AA,AG,GG		0.0121,0.0257,0.0164	benign	169/239	77775636	2,12188	1948	4147	6095	SO:0001583	missense	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77775636G>A	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.506G>A	16.37:g.77775636G>A	ENSP00000268533:p.Arg169His					NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.R116H|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA	p.R169H	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN			4	575	+			169			Nudix hydrolase.		B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	c.506G>A	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313061	0.23908	2.57E-4	1.21E-4	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.39056	1.1;1.1	5.42	-10.8	0.00216	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	2.159190	0.01680	N	0.026117	T	0.13713	0.0332	N	0.03903	-0.33	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.10291	-1.0636	10	0.15499	T	0.54	1.1659	3.3487	0.07145	0.0911:0.2383:0.3695:0.3011	.	116;169	B4DLE5;P0C024	.;NUDT7_HUMAN	H	169;116	ENSP00000268533:R169H;ENSP00000387707:R116H	ENSP00000268533:R169H	R	+	2	0	NUDT7	76333137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.398000	0.00240	-1.732000	0.01359	-0.181000	0.13052	CGT		0.473	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			24	38	0	0	0	1	0	24	38				
SRSF11	9295	broad.mit.edu	37	1	70687521	70687521	+	Splice_Site	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:70687521G>A	ENST00000370950.3	+	2	284	c.202G>A	c.(202-204)Gat>Aat	p.D68N	SRSF11_ENST00000436161.2_Splice_Site_p.D68N|SRSF11_ENST00000454435.2_Splice_Site_p.D68N|RP4-677H15.4_ENST00000422107.1_RNA|SRSF11_ENST00000370951.1_Splice_Site_p.D68N|SRSF11_ENST00000405432.1_Splice_Site_p.D68N			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	68	RRM. {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)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						CTTCCCGCCGGAGTGAGTATC	0.587																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.e2+1		serine/arginine-rich splicing factor 11							52.0	48.0	49.0					1																	70687521		2203	4300	6503	SO:0001630	splice_region_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70687521G>A	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.203+1G>A	1.37:g.70687521G>A						SRSF11_ENST00000370951.1_Splice_Site_p.D68_splice|SRSF11_ENST00000454435.2_Splice_Site_p.D68_splice|SRSF11_ENST00000405432.1_Splice_Site_p.D68_splice|SRSF11_ENST00000436161.2_Splice_Site_p.D68_splice	p.D68_splice			Q05519	SRS11_HUMAN			2	284	+			68			RRM.		Q5T758|Q8IWE6	Splice_Site	SNP	ENST00000370950.3	37	c.203_splice	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929656	0.92389	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000454435;ENST00000395136;ENST00000436161	.	.	.	5.11	5.11	0.69529	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	L	0.35487	1.065	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.817;0.997;0.997;0.997;0.997	D;B;D;D;D;D	0.81914	0.995;0.284;0.994;0.994;0.994;0.994	T	0.61103	-0.7130	9	0.42905	T	0.14	.	18.1266	0.89587	0.0:0.0:1.0:0.0	.	68;68;68;68;68;68	B4DTC1;B4DWT1;Q05BU6;Q6PJB9;Q8IWE6;Q05519	.;.;.;.;.;SRS11_HUMAN	N	68	.	ENSP00000359988:D68N	D	+	1	0	SRSF11	70460109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.236000	0.78154	2.362000	0.80069	0.462000	0.41574	GAT		0.587	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	Missense_Mutation	11	40	0	0	0	1	0	11	40				
SLC45A4	57210	broad.mit.edu	37	8	142228890	142228890	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:142228890G>A	ENST00000024061.3	-	4	1003	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLC45A4_ENST00000433583.2_Silent_p.F225F|SLC45A4_ENST00000517878.1_Silent_p.F283F|SLC45A4_ENST00000519067.1_Silent_p.F232F	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCTCGTCTGGGAAGGCAGGGA	0.677																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(694-696)ttC>ttT		solute carrier family 45, member 4							78.0	82.0	80.0					8																	142228890		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142228890G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.696C>T	8.37:g.142228890G>A						SLC45A4_ENST00000517878.1_Silent_p.F283F|SLC45A4_ENST00000433583.2_Silent_p.F225F|SLC45A4_ENST00000024061.3_Silent_p.F232F	p.F232F			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	999	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		283					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.696C>T	CCDS34948.1																																																																																				0.677	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		26	82	0	0	0	1	0	26	82				
PTPRH	5794	broad.mit.edu	37	19	55713502	55713502	+	Missense_Mutation	SNP	C	C	T	rs147691392	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55713502C>T	ENST00000376350.3	-	6	1097	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R	PTPRH_ENST00000263434.5_Missense_Mutation_p.G181R|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	359	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TACAAACACCCGGGTTCAAGT	0.542													C|||	2	0.000399361	0.0	0.0	5008	,	,		19879	0.0		0.001	False		,,,				2504	0.001					ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1075-1077)Ggg>Agg		protein tyrosine phosphatase, receptor type, H		C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	144.0	134.0	137.0		541,1075	4.8	0.0	19	dbSNP_134	137	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	125,125	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging,probably-damaging	181/938,359/1116	55713502	5,13001	2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55713502C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1075G>A	19.37:g.55713502C>T	ENSP00000365528:p.Gly359Arg					PTPRH_ENST00000263434.5_Missense_Mutation_p.G181R|PTPRH_ENST00000588559.1_5'UTR	p.G359R	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	6	1097	-		Renal(1328;0.245)	359			Fibronectin type-III 4.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1075G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388498	0.61956	0.0	5.81E-4	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.62639	0.01;0.01	4.79	4.79	0.61399	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76535	0.4001	M	0.62209	1.925	0.09310	N	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.67373	-0.5687	9	0.87932	D	0	.	13.7489	0.62894	0.0:1.0:0.0:0.0	.	181;181;359	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	R	359;181	ENSP00000365528:G359R;ENSP00000263434:G181R	ENSP00000263434:G181R	G	-	1	0	PTPRH	60405314	0.004000	0.15560	0.005000	0.12908	0.001000	0.01503	1.200000	0.32247	2.360000	0.80028	0.456000	0.33151	GGG		0.542	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			45	61	0	0	0	1	0	45	61				
YLPM1	56252	broad.mit.edu	37	14	75230628	75230628	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr14:75230628C>A	ENST00000552421.1	+	1	560	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	YLPM1_ENST00000238571.3_Missense_Mutation_p.P146T|YLPM1_ENST00000325680.7_Missense_Mutation_p.P146T			P49750	YLPM1_HUMAN	YLP motif containing 1	146	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTGGAATCCCCCCCTGAATC	0.612																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(436-438)Ccc>Acc		YLP motif containing 1							46.0	55.0	52.0					14																	75230628		1928	4113	6041	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230628C>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.436C>A	14.37:g.75230628C>A	ENSP00000447921:p.Pro146Thr					YLPM1_ENST00000552421.1_Missense_Mutation_p.P146T|YLPM1_ENST00000238571.3_Missense_Mutation_p.P146T	p.P146T	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	560	+			146			Pro-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.436C>A		.	.	.	.	.	.	.	.	.	.	C	9.535	1.111758	0.20714	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.21361	2.01;2.01;2.01	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000014	T	0.23370	0.0565	N	0.14661	0.345	0.29532	N	0.852719	D	0.54964	0.969	P	0.53313	0.723	T	0.05468	-1.0883	10	0.87932	D	0	-4.673	16.7534	0.85493	0.0:1.0:0.0:0.0	.	146	P49750-4	.	T	146	ENSP00000447921:P146T;ENSP00000324463:P146T;ENSP00000238571:P146T	ENSP00000238571:P146T	P	+	1	0	YLPM1	74300381	0.817000	0.29147	0.998000	0.56505	0.792000	0.44763	3.226000	0.51254	2.484000	0.83849	0.650000	0.86243	CCC		0.612	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		3	10	1	0	1	1	1	3	10				
EGFR	1956	broad.mit.edu	37	7	55268101	55268101	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55268101A>T	ENST00000275493.2	+	24	3118	c.2941A>T	c.(2941-2943)Att>Ttt	p.I981F	EGFR_ENST00000455089.1_Missense_Mutation_p.I936F|EGFR_ENST00000454757.2_Missense_Mutation_p.I928F|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	981					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTACCTTGTCATTCAGGTACA	0.517		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2941-2943)Att>Ttt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118.0	101.0	107.0					7																	55268101		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268101A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2941A>T	7.37:g.55268101A>T	ENSP00000275493:p.Ile981Phe	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.I928F|EGFR_ENST00000455089.1_Missense_Mutation_p.I936F|EGFR_ENST00000442591.1_Intron	p.I981F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		24	3118	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		981					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2941A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470904	0.84533	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62364	0.03;0.03;0.03	5.61	5.61	0.85477	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	M	0.88906	2.99	0.80722	D	1	P;D	0.61080	0.95;0.989	B;P	0.45856	0.257;0.495	T	0.80013	-0.1560	10	0.87932	D	0	.	14.9256	0.70875	1.0:0.0:0.0:0.0	.	936;981	Q504U8;P00533	.;EGFR_HUMAN	F	936;851;981;928	ENSP00000415559:I936F;ENSP00000275493:I981F;ENSP00000395243:I928F	ENSP00000275493:I981F	I	+	1	0	EGFR	55235595	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	9.192000	0.94947	2.259000	0.74868	0.528000	0.53228	ATT		0.517	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		25	1274	0	0	0	1	0	25	1274				
KLRAP1	10748	broad.mit.edu	37	12	10746526	10746526	+	RNA	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:10746526C>T	ENST00000510134.2	-	0	393									killer cell lectin-like receptor subfamily A pseudogene 1											breast(1)|large_intestine(1)|lung(1)	3						CTGTTTACATCCCTTCCAGTC	0.363																																						ENST00000510134.2																			0				breast(1)|large_intestine(1)|lung(1)	3															120.0	113.0	115.0					12																	10746526		2203	4300	6503			0							g.chr12:10746526C>T	AF047445		12p13.2	2012-01-16	2010-10-28	2010-10-28	ENSG00000256667	ENSG00000256667		"""Killer cell lectin-like receptors"""	6372	pseudogene	pseudogene		604274	"""killer cell lectin-like receptor subfamily A, member 1"""	KLRA1		9645365	Standard	NR_028045		Approved	Ly49, LY49L	uc009zho.3		OTTHUMG00000160127		12.37:g.10746526C>T														0	393	-									RNA	SNP	ENST00000510134.2	37																																																																																						0.363	KLRAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359305.2	NR_028045		12	57	0	0	0	1	0	12	57				
FAM83G	644815	broad.mit.edu	37	17	18881610	18881610	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:18881610C>T	ENST00000388995.6	-	5	1592	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	FAM83G_ENST00000345041.4_Missense_Mutation_p.A457T|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A457T|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	457					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						TGGTGCTGGGCGCTGGCCTGG	0.642																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1369-1371)Gcc>Acc		family with sequence similarity 83, member G							19.0	23.0	22.0					17																	18881610		2107	4229	6336	SO:0001583	missense	644815							g.chr17:18881610C>T	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.1369G>A	17.37:g.18881610C>T	ENSP00000373647:p.Ala457Thr					FAM83G_ENST00000585154.2_Missense_Mutation_p.A457T|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A457T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron	p.A457T			A6ND36	FA83G_HUMAN			5	1592	-			457					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1369G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867629	0.32977	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.14640	2.49;2.49	5.72	-4.48	0.03515	.	0.717458	0.12387	N	0.473408	T	0.05777	0.0151	N	0.04297	-0.235	0.20196	N	0.99993	B	0.19445	0.036	B	0.10450	0.005	T	0.33471	-0.9867	10	0.23891	T	0.37	-9.7422	14.4919	0.67657	0.0:0.8505:0.0:0.1495	.	457	A6ND36	FA83G_HUMAN	T	457	ENSP00000373647:A457T;ENSP00000343279:A457T	ENSP00000343279:A457T	A	-	1	0	FAM83G	18822335	0.000000	0.05858	0.002000	0.10522	0.949000	0.60115	-0.750000	0.04808	-1.189000	0.02702	-0.136000	0.14681	GCC		0.642	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			7	10	0	0	0	1	0	7	10				
OR6M1	390261	broad.mit.edu	37	11	123676254	123676254	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:123676254G>C	ENST00000309154.2	-	1	841	c.804C>G	c.(802-804)gaC>gaG	p.D268E		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	268						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(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CGGCCACCTTGTCATAATCCA	0.488																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(802-804)gaC>gaG		olfactory receptor, family 6, subfamily M, member 1							120.0	112.0	114.0					11																	123676254		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676254G>C	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.804C>G	11.37:g.123676254G>C	ENSP00000311038:p.Asp268Glu						p.D268E	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	841	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	268					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.804C>G	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479676	0.26511	.	.	ENSG00000196099	ENST00000309154	T	0.00227	8.5	3.48	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35124	U	0.003433	T	0.00144	0.0004	L	0.33668	1.02	0.22330	N	0.9992	P	0.36183	0.542	B	0.39771	0.309	T	0.31447	-0.9943	10	0.87932	D	0	.	4.7054	0.12848	0.1272:0.2255:0.6473:0.0	.	268	Q8NGM8	OR6M1_HUMAN	E	268	ENSP00000311038:D268E	ENSP00000311038:D268E	D	-	3	2	OR6M1	123181464	0.068000	0.21057	0.911000	0.35937	0.456000	0.32438	0.652000	0.24888	0.642000	0.30620	0.655000	0.94253	GAC		0.488	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		29	54	0	0	0	1	0	29	54				
NLGN3	54413	broad.mit.edu	37	X	70389237	70389237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:70389237C>T	ENST00000358741.3	+	8	2140	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	NLGN3_ENST00000374051.3_Nonsense_Mutation_p.R593*|NLGN3_ENST00000536169.1_Nonsense_Mutation_p.R573*|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	613					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCAAGGGTCCGAGATCATTA	0.527																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1777-1779)Cga>Tga		neuroligin 3							54.0	43.0	47.0					X																	70389237		2202	4299	6501	SO:0001587	stop_gained	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389237C>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1837C>T	X.37:g.70389237C>T	ENSP00000351591:p.Arg613*					NLGN3_ENST00000358741.3_Nonsense_Mutation_p.R613*|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Nonsense_Mutation_p.R573*	p.R593*	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			7	2099	+	Renal(35;0.156)		613					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Nonsense_Mutation	SNP	ENST00000358741.3	37	c.1777C>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	40	8.252203	0.98727	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4934	0.87711	0.0:1.0:0.0:0.0	.	.	.	.	X	573;593;613	.	ENSP00000351591:R613X	R	+	1	2	NLGN3	70305962	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.702000	0.61817	2.315000	0.78130	0.431000	0.28591	CGA		0.527	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		4	9	0	0	0	1	0	4	9				
LETM2	137994	broad.mit.edu	37	8	38250441	38250441	+	Silent	SNP	C	C	T	rs369104625		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:38250441C>T	ENST00000379957.4	+	3	556	c.429C>T	c.(427-429)gaC>gaT	p.D143D	LETM2_ENST00000519476.2_Silent_p.D143D|LETM2_ENST00000297720.5_Silent_p.D96D|LETM2_ENST00000523983.2_Silent_p.D96D|LETM2_ENST00000524874.1_Silent_p.D143D	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	143	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			TTTGGATTGACGCCAAAGTTG	0.393																																						ENST00000519476.2																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(427-429)gaC>gaT		leucine zipper-EF-hand containing transmembrane protein 2		C	,,	0,4406		0,0,2203	61.0	62.0	62.0		288,,288	3.9	1.0	8		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-5,coding-synonymous	LETM2	NM_001199659.1,NM_001199660.1,NM_144652.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	96/445,,96/397	38250441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38250441C>T	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.429C>T	8.37:g.38250441C>T						LETM2_ENST00000379957.4_Silent_p.D143D|LETM2_ENST00000523983.2_Silent_p.D96D|LETM2_ENST00000524874.1_Silent_p.D143D|LETM2_ENST00000297720.5_Silent_p.D96D	p.D143D			Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		3	729	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	143			LETM1.		A6NMG3|Q8NCR2|Q96LL1	Silent	SNP	ENST00000379957.4	37	c.429C>T																																																																																					0.393	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		21	43	0	0	0	1	0	21	43				
SLC9A6	10479	broad.mit.edu	37	X	135112296	135112296	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135112296G>C	ENST00000370698.3	+	13	1561	c.1526G>C	c.(1525-1527)gGt>gCt	p.G509A	SLC9A6_ENST00000370701.1_Missense_Mutation_p.G489A|SLC9A6_ENST00000370695.4_Missense_Mutation_p.G541A	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	509					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTTAGGGTTGGTGTTGATTCA	0.358																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1621-1623)gGt>gCt		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							301.0	243.0	263.0					X																	135112296		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135112296G>C	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1526G>C	X.37:g.135112296G>C	ENSP00000359732:p.Gly509Ala					SLC9A6_ENST00000370698.3_Missense_Mutation_p.G509A|SLC9A6_ENST00000370701.1_Missense_Mutation_p.G489A	p.G541A	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			13	1657	+	Acute lymphoblastic leukemia(192;0.000127)		509					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1622G>C	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292279	0.59976	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.37584	1.19;1.19;1.19	4.55	4.55	0.56014	.	0.953589	0.08741	N	0.900614	T	0.53012	0.1770	M	0.85462	2.755	0.58432	D	0.999999	B;P	0.35944	0.317;0.529	B;B	0.42959	0.267;0.403	T	0.54866	-0.8229	10	0.87932	D	0	.	11.877	0.52552	0.0:0.0:1.0:0.0	.	541;509	Q92581-2;Q92581	.;SL9A6_HUMAN	A	489;509;541	ENSP00000359735:G489A;ENSP00000359732:G509A;ENSP00000359729:G541A	ENSP00000359729:G541A	G	+	2	0	SLC9A6	134939962	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.412000	0.66392	1.840000	0.53500	0.292000	0.19580	GGT		0.358	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		22	69	0	0	0	1	0	22	69				
F5	2153	broad.mit.edu	37	1	169512193	169512193	+	Missense_Mutation	SNP	C	C	T	rs535939475		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:169512193C>T	ENST00000367797.3	-	13	2336	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H	F5_ENST00000367796.3_Missense_Mutation_p.R717H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	712	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGGTTCTAAACGATCATGCAT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		20912	0.0		0.001	False		,,,				2504	0.0					ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(2149-2151)cGt>cAt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						259.0	244.0	249.0					1																	169512193		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169512193C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2135G>A	1.37:g.169512193C>T	ENSP00000356771:p.Arg712His					F5_ENST00000367797.3_Missense_Mutation_p.R712H	p.R717H			P12259	FA5_HUMAN			13	2351	-	all_hematologic(923;0.208)		712			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2150G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	6.532	0.466398	0.12402	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.23348	1.91;1.91	5.88	-3.25	0.05079	.	1.110990	0.06643	N	0.761376	T	0.03390	0.0098	N	0.14661	0.345	0.22947	N	0.998521	B	0.29162	0.235	B	0.19666	0.026	T	0.36890	-0.9729	9	0.38643	T	0.18	-0.0988	3.3434	0.07127	0.3016:0.1131:0.4881:0.0972	.	712	P12259	FA5_HUMAN	H	712;717	ENSP00000356771:R712H;ENSP00000356770:R717H	ENSP00000356770:R717H	R	-	2	0	F5	167778817	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.083000	0.11286	-0.564000	0.06070	-2.150000	0.00334	CGT		0.403	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		75	147	0	0	0	1	0	75	147				
LILRA2	11027	broad.mit.edu	37	19	55086781	55086781	+	Silent	SNP	G	G	A	rs144206436		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55086781G>A	ENST00000251377.3	+	6	847	c.714G>A	c.(712-714)gaG>gaA	p.E238E	LILRA2_ENST00000251376.3_Silent_p.E238E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.E226E|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.E238E|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	238	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCCGGGGAGAGCCTGACCC	0.577																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(712-714)gaG>gaA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							108.0	110.0	109.0					19																	55086781		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:55086781G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.714G>A	19.37:g.55086781G>A						LILRA2_ENST00000391737.1_Silent_p.E226E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E238E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.E238E|LILRB1_ENST00000448689.1_Intron	p.E238E						GBM - Glioblastoma multiforme(193;0.0963)	6	847	+								O75020	Silent	SNP	ENST00000251377.3	37	c.714G>A	CCDS46179.1																																																																																				0.577	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			33	52	0	0	0	1	0	33	52				
PCDH11X	27328	broad.mit.edu	37	X	91133712	91133712	+	Missense_Mutation	SNP	G	G	A	rs377250651		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2473-2475)Gtt>Att		protocadherin 11 X-linked		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3834		0,1,1631,571	52.0	45.0	48.0		2473,2473,2473,2473,2473,2473,2473,2473	-0.9	0.0	X		48	0,6719		0,0,2425,1869	no	missense,missense,missense,missense,missense,missense,missense,missense	PCDH11X	NM_032969.3,NM_032968.3,NM_032967.2,NM_014522.1,NM_001168363.1,NM_001168362.1,NM_001168361.1,NM_001168360.1	29,29,29,29,29,29,29,29	0,1,4056,2440	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign,benign,benign	825/1338,825/1348,825/1026,825/1022,825/1330,825/1311,825/1066,825/1340	91133712	1,10553	2203	4294	6497	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133712G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2473G>A	X.37:g.91133712G>A	ENSP00000362186:p.Val825Ile					PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I	p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3318	+			825					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2473G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.097495	0.00034	2.61E-4	0.0	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.15	-0.908	0.10517	Protocadherin (1);	0.222920	0.44097	N	0.000483	T	0.05090	0.0136	N	0.00583	-1.355	0.24408	N	0.994678	B;B;B;B;B;B;B;B	0.12013	0.004;0.004;0.004;0.004;0.004;0.005;0.004;0.002	B;B;B;B;B;B;B;B	0.11329	0.003;0.003;0.003;0.003;0.003;0.006;0.003;0.003	T	0.42982	-0.9419	10	0.02654	T	1	.	9.8467	0.41032	0.6433:0.0:0.3567:0.0	.	825;825;825;825;825;825;825;825	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	825	ENSP00000378746:V825I;ENSP00000362186:V825I;ENSP00000362189:V825I;ENSP00000355040:V825I;ENSP00000362180:V825I;ENSP00000423762:V825I;ENSP00000355105:V825I;ENSP00000384758:V825I;ENSP00000298274:V825I	ENSP00000298274:V825I	V	+	1	0	PCDH11X	91020368	0.848000	0.29623	0.031000	0.17742	0.033000	0.12548	1.274000	0.33132	-0.109000	0.12044	-0.365000	0.07479	GTT		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		38	56	0	0	0	1	0	38	56				
PACSIN1	29993	broad.mit.edu	37	6	34498365	34498365	+	Splice_Site	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:34498365G>A	ENST00000538621.1	+	8	1282		c.e8+1		PACSIN1_ENST00000374043.2_Splice_Site|PACSIN1_ENST00000244458.2_Splice_Site	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1						actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACCGCGGCAGGTGAGTGCCTC	0.582																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.e8+1		protein kinase C and casein kinase substrate in neurons 1							38.0	35.0	36.0					6																	34498365		2202	4300	6502	SO:0001630	splice_region_variant	0				endocytosis		protein kinase activity	g.chr6:34498365G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1037+1G>A	6.37:g.34498365G>A						PACSIN1_ENST00000374043.2_Splice_Site|PACSIN1_ENST00000244458.2_Splice_Site		NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			8	1282	+								Q9P2G8	Splice_Site	SNP	ENST00000538621.1	37		CCDS4793.1	.	.	.	.	.	.	.	.	.	.	g	19.99	3.928587	0.73327	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5455	0.87860	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PACSIN1	34606343	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.368000	0.97152	2.483000	0.83821	0.450000	0.29827	.		0.582	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1		Intron	9	10	0	0	0	1	0	9	10				
SLC12A3	6559	broad.mit.edu	37	16	56928468	56928468	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:56928468C>T	ENST00000563236.1	+	22	2572	c.2547C>T	c.(2545-2547)ctC>ctT	p.L849L	SLC12A3_ENST00000438926.2_Silent_p.L858L|SLC12A3_ENST00000262502.5_Silent_p.L848L|SLC12A3_ENST00000566786.1_Silent_p.L857L			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	849			L -> H (in GS; dbSNP:rs185927948). {ECO:0000269|PubMed:10616841, ECO:0000269|PubMed:15069170, ECO:0000269|PubMed:17873326}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCCCTATCTCCTTGGCCGCA	0.557																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2572-2574)ctC>ctT		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						109.0	89.0	96.0					16																	56928468		2198	4300	6498	SO:0001819	synonymous_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56928468C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2547C>T	16.37:g.56928468C>T						SLC12A3_ENST00000563236.1_Silent_p.L849L|SLC12A3_ENST00000566786.1_Silent_p.L857L|SLC12A3_ENST00000262502.5_Silent_p.L848L	p.L858L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			22	2603	+			849					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.2574C>T	CCDS58464.1																																																																																				0.557	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			7	9	0	0	0	1	0	7	9				
SLAMF7	57823	broad.mit.edu	37	1	160719612	160719612	+	Splice_Site	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:160719612G>A	ENST00000368043.3	+	3	415	c.378G>A	c.(376-378)gaG>gaA	p.E126E	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458104.2_Splice_Site_p.E19E|SLAMF7_ENST00000458602.2_Splice_Site_p.E19E|SLAMF7_ENST00000359331.4_Splice_Site_p.E126E|SLAMF7_ENST00000368042.3_Splice_Site_p.E19E|SLAMF7_ENST00000441662.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	126					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTCTCACAGAGCACCTGTCAA	0.493																																						ENST00000368043.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24						c.e3-1		SLAM family member 7							115.0	117.0	116.0					1																	160719612		2203	4300	6503	SO:0001630	splice_region_variant	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160719612G>A	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.377-1G>A	1.37:g.160719612G>A						SLAMF7_ENST00000458602.2_Splice_Site_p.E19_splice|SLAMF7_ENST00000359331.4_Splice_Site_p.E126_splice|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458104.2_Splice_Site_p.E19_splice|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Splice_Site_p.E19_splice	p.E126_splice	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	415	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		126					A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Splice_Site	SNP	ENST00000368043.3	37	c.376_splice	CCDS1209.1																																																																																				0.493	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181	Silent	51	84	0	0	0	1	0	51	84				
GPR115	221393	broad.mit.edu	37	6	47680159	47680159	+	Nonsense_Mutation	SNP	C	C	T	rs200228477		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:47680159C>T	ENST00000283303.2	+	5	625	c.367C>T	c.(367-369)Cga>Tga	p.R123*	GPR115_ENST00000371220.1_Nonsense_Mutation_p.R180*|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Nonsense_Mutation_p.R123*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	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)	p.R123*(1)		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						TCTAGACTTTCGAGCTCCAGA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		18637	0.0		0.001	False		,,,				2504	0.0				GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			1	Substitution - Nonsense(1)	p.R123*(1)	pancreas(1)	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						c.(367-369)Cga>Tga		G protein-coupled receptor 115		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	149.0	139.0	143.0		367	0.4	0.0	6		143	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	GPR115	NM_153838.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		123/696	47680159	3,13003	2203	4300	6503	SO:0001587	stop_gained	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47680159C>T	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.367C>T	6.37:g.47680159C>T	ENSP00000283303:p.Arg123*					GPR115_ENST00000371220.1_Nonsense_Mutation_p.R180*|GPR115_ENST00000327753.3_Nonsense_Mutation_p.R123*	p.R123*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			5	625	+			123					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Nonsense_Mutation	SNP	ENST00000283303.2	37	c.367C>T	CCDS4922.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.3	4.517321	0.85495	2.27E-4	2.33E-4	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	4.4	0.355	0.16069	.	1.859300	0.02305	N	0.071614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	1.7664	6.9709	0.24648	0.3264:0.3554:0.3181:0.0	.	.	.	.	X	180;123;123	.	ENSP00000283303:R123X	R	+	1	2	GPR115	47788118	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.002000	0.12924	0.047000	0.15862	0.655000	0.94253	CGA		0.423	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		50	113	0	0	0	1	0	50	113				
COBL	23242	broad.mit.edu	37	7	51287614	51287614	+	Silent	SNP	T	T	G	rs145775268		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:51287614T>G	ENST00000265136.7	-	2	234	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000441453.1_Silent_p.P23P|COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000395542.2_Silent_p.P23P	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(67-69)ccA>ccC		cordon-bleu WH2 repeat protein							20.0	22.0	21.0					7																	51287614		2174	4248	6422	SO:0001819	synonymous_variant	23242							g.chr7:51287614T>G	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.69A>C	7.37:g.51287614T>G						COBL_ENST00000265136.7_Silent_p.P23P|COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P	p.P23P			O75128	COBL_HUMAN			2	253	-	Glioma(55;0.08)		23			Poly-Pro.		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.69A>C	CCDS34637.1																																																																																				0.552	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		6	25	0	0	0	1	0	6	25				
PROKR2	128674	broad.mit.edu	37	20	5283062	5283062	+	Missense_Mutation	SNP	G	G	A	rs370738961		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:5283062G>A	ENST00000217270.3	-	2	778	c.779C>T	c.(778-780)aCg>aTg	p.T260M	PROKR2_ENST00000546004.1_Missense_Mutation_p.T260M	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	260					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AATCTGCTCCGTCTGGAACCC	0.607										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(778-780)aCg>aTg		prokineticin receptor 2		G	MET/THR	0,4406		0,0,2203	56.0	52.0	53.0		779	4.1	0.9	20		53	2,8598	2.2+/-6.3	0,2,4298	no	missense	PROKR2	NM_144773.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	260/385	5283062	2,13004	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283062G>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.779C>T	20.37:g.5283062G>A	ENSP00000217270:p.Thr260Met	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.T260M	p.T260M			Q8NFJ6	PKR2_HUMAN			3	1025	-			260					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.779C>T	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735252	0.69189	0.0	2.33E-4	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.35789	1.29;1.29	5.05	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.047338	0.85682	D	0.000000	T	0.64681	0.2620	M	0.88906	2.99	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.71507	-0.4572	10	0.66056	D	0.02	.	13.1366	0.59413	0.0:0.1621:0.8379:0.0	.	260	Q8NFJ6	PKR2_HUMAN	M	260	ENSP00000440790:T260M;ENSP00000217270:T260M	ENSP00000217270:T260M	T	-	2	0	PROKR2	5231062	1.000000	0.71417	0.872000	0.34217	0.875000	0.50365	9.294000	0.96088	1.103000	0.41568	0.655000	0.94253	ACG		0.607	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		5	22	0	0	0	1	0	5	22				
CDH13	1012	broad.mit.edu	37	16	83250986	83250986	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:83250986C>T	ENST00000566620.1	+	5	810	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.R221W|CDH13_ENST00000428848.3_Missense_Mutation_p.R135W	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	174	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTCCAAGTTCCGGCTCACTGG	0.463																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(520-522)Cgg>Tgg		cadherin 13							91.0	89.0	90.0					16																	83250986		1876	4102	5978	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83250986C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.520C>T	16.37:g.83250986C>T	ENSP00000454435:p.Arg174Trp					CDH13_ENST00000428848.3_Missense_Mutation_p.R135W|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.R221W	p.R174W	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	5	810	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	174			Cadherin 1.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.520C>T	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228135	0.79576	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.54866	0.55	5.77	4.78	0.61160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73369	0.3578	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.69307	0.963;0.916;0.952	T	0.77507	-0.2562	9	0.72032	D	0.01	.	14.0092	0.64486	0.1514:0.8486:0.0:0.0	.	135;221;174	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	W	221;174;135	ENSP00000268613:R221W	ENSP00000268613:R221W	R	+	1	2	CDH13	81808487	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.526000	0.22971	2.720000	0.93068	0.557000	0.71058	CGG		0.463	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		23	32	0	0	0	1	0	23	32				
KLK1	3816	broad.mit.edu	37	19	51323240	51323240	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51323240T>G	ENST00000301420.2	-	4	583	c.548A>C	c.(547-549)gAt>gCt	p.D183A	CTD-2568A17.5_ENST00000326989.5_lincRNA|KLK1_ENST00000448701.2_Missense_Mutation_p.D81A	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	183	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	TTTGCACTCATCATTAGGCAG	0.547																																						ENST00000448701.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(241-243)gAt>gCt		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						107.0	84.0	92.0					19																	51323240		2203	4300	6503	SO:0001583	missense	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51323240T>G	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.548A>C	19.37:g.51323240T>G	ENSP00000301420:p.Asp183Ala					KLK1_ENST00000301420.2_Missense_Mutation_p.D183A	p.D81A			P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	5	1566	-		all_neural(266;0.0199)	183			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	c.242A>C	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	t	10.41	1.341539	0.24339	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.88277	-2.36;-2.36	2.91	2.91	0.33838	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.69780	0.3149	N	0.02775	-0.495	0.09310	N	1	B	0.23540	0.087	B	0.22601	0.04	T	0.59069	-0.7523	9	0.07030	T	0.85	.	7.6366	0.28270	0.0:0.0:0.0:1.0	.	183	P06870	KLK1_HUMAN	A	183;81	ENSP00000301420:D183A;ENSP00000400994:D81A	ENSP00000301420:D183A	D	-	2	0	KLK1	56015052	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-1.349000	0.02627	1.577000	0.49804	0.255000	0.18592	GAT		0.547	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		12	30	0	0	0	1	0	12	30				
FILIP1	27145	broad.mit.edu	37	6	76024624	76024624	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:76024624C>T	ENST00000237172.7	-	5	1254	c.924G>A	c.(922-924)tcG>tcA	p.S308S	FILIP1_ENST00000393004.2_Silent_p.S308S|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.S209S	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	308										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						GAGAAAACCTCGAAGCCTTGT	0.418																																						ENST00000393004.2																			0				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						c.(922-924)tcG>tcA		filamin A interacting protein 1							144.0	132.0	136.0					6																	76024624		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76024624C>T	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.924G>A	6.37:g.76024624C>T						FILIP1_ENST00000237172.7_Silent_p.S308S|FILIP1_ENST00000370020.1_Silent_p.S209S|FILIP1_ENST00000498523.1_5'UTR	p.S308S			Q7Z7B0	FLIP1_HUMAN			5	1145	-			308					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.924G>A	CCDS4984.1																																																																																				0.418	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		57	83	0	0	0	1	0	57	83				
POLR2G	5436	broad.mit.edu	37	11	62530370	62530370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:62530370G>A	ENST00000301788.7	+	3	259	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	52					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						CACCACCATTGACAATATTGG	0.468																																						ENST00000301788.7																			0				lung(3)	3						c.(154-156)Gac>Aac		polymerase (RNA) II (DNA directed) polypeptide G							187.0	156.0	167.0					11																	62530370		2202	4299	6501	SO:0001583	missense	5436				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	g.chr11:62530370G>A	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.154G>A	11.37:g.62530370G>A	ENSP00000301788:p.Asp52Asn						p.D52N	NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN			3	259	+			52					B2R5C0|P52433|Q2M1Z4	Missense_Mutation	SNP	ENST00000301788.7	37	c.154G>A	CCDS31585.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969353	0.74246	.	.	ENSG00000168002	ENST00000301788	.	.	.	5.92	5.92	0.95590	RNA polymerase Rpb7, N-terminal (3);	0.047696	0.85682	D	0.000000	T	0.61515	0.2353	M	0.78456	2.415	0.80722	D	1	P	0.48694	0.914	B	0.42361	0.385	T	0.60929	-0.7165	9	0.20519	T	0.43	-25.8638	17.811	0.88616	0.0:0.0:1.0:0.0	.	52	P62487	RPB7_HUMAN	N	52	.	ENSP00000301788:D52N	D	+	1	0	POLR2G	62286946	1.000000	0.71417	0.948000	0.38648	0.988000	0.76386	8.584000	0.90798	2.801000	0.96364	0.650000	0.86243	GAC		0.468	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	NM_002696		33	63	0	0	0	1	0	33	63				
USP34	9736	broad.mit.edu	37	2	61468710	61468710	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:61468710C>T	ENST00000398571.2	-	53	6838	c.6762G>A	c.(6760-6762)tcG>tcA	p.S2254S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2254					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTAACTCTGACGAAACATCAA	0.328																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(6760-6762)tcG>tcA		ubiquitin specific peptidase 34							166.0	142.0	150.0					2																	61468710		1818	4081	5899	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61468710C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6762G>A	2.37:g.61468710C>T							p.S2254S	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		53	6838	-			2254					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.6762G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	9.555	1.116964	0.20795	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.51	-3.07	0.05363	.	.	.	.	.	T	0.39118	0.1066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29212	-1.0019	4	.	.	.	.	2.2668	0.04080	0.1028:0.249:0.317:0.3313	.	.	.	.	I	14	.	.	V	-	1	0	USP34	61322214	0.954000	0.32549	0.973000	0.42090	0.979000	0.70002	0.094000	0.15107	-0.706000	0.05028	-0.237000	0.12165	GTC		0.328	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			12	26	0	0	0	1	0	12	26				
PAX8	7849	broad.mit.edu	37	2	114002201	114002201	+	Splice_Site	SNP	C	C	A	rs560233979		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:114002201C>A	ENST00000429538.3	-	4	386	c.192G>T	c.(190-192)agG>agT	p.R64S	AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Splice_Site_p.R64S|PAX8_ENST00000263334.5_Splice_Site_p.R64S|PAX8_ENST00000263335.7_Splice_Site_p.R64S|PAX8_ENST00000348715.5_Splice_Site_p.R64S|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	64	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|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 mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|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 thyroid hormone generation (GO:2000611)|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)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TCTCGTAGTACCTACTCCAAT	0.552			T	PPARG	follicular thyroid		Thyroid dysgenesis						C|||	1	0.000199681	0.0	0.0	5008	,	,		19768	0.001		0.0	False		,,,				2504	0.0				Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.e4-1		paired box 8							94.0	98.0	97.0					2																	114002201		2017	4207	6224	SO:0001630	splice_region_variant	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114002201C>A	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.192-1G>T	2.37:g.114002201C>A						PAX8_ENST00000397647.3_Splice_Site_p.R64_splice|PAX8_ENST00000348715.5_Splice_Site_p.R64_splice|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263334.5_Splice_Site_p.R64_splice|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000263335.7_Splice_Site_p.R64_splice|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA	p.R64_splice	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			4	386	-			64			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Splice_Site	SNP	ENST00000429538.3	37	c.191_splice	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828681	0.71258	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99660	-6.32;-6.32;-6.32;-6.32;-6.32	5.18	5.18	0.71444	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99746	0.9899	H	0.95294	3.65	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.999;1.0	D;D;D;P;D	0.97110	0.951;1.0;0.995;0.876;1.0	D	0.97189	0.9856	10	0.87932	D	0	.	16.1735	0.81833	0.0:1.0:0.0:0.0	.	64;64;64;64;64	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	S	64	ENSP00000263335:R64S;ENSP00000380768:R64S;ENSP00000314750:R64S;ENSP00000395498:R64S;ENSP00000263334:R64S	ENSP00000263334:R64S	R	-	3	2	PAX8	113718671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.003000	0.40844	2.414000	0.81942	0.655000	0.94253	AGG		0.552	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5		Missense_Mutation	29	109	1	0	2.08457e-15	1	2.22904e-15	29	109				
TGIF2LX	90316	broad.mit.edu	37	X	89177201	89177201	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:89177201T>A	ENST00000561129.2	+	1	247	c.117T>A	c.(115-117)gaT>gaA	p.D39E	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.D39E			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAACGCAGATACAGGCAGAG	0.547																																						ENST00000561129.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(115-117)gaT>gaA		TGFB-induced factor homeobox 2-like, X-linked							23.0	26.0	25.0					X																	89177201		2201	4273	6474	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177201T>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.117T>A	X.37:g.89177201T>A	ENSP00000453704:p.Asp39Glu					TGIF2LX_ENST00000283891.5_Missense_Mutation_p.D39E	p.D39E			Q8IUE1	TF2LX_HUMAN			1	247	+			39					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.117T>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	T	9.113	1.007154	0.19199	.	.	ENSG00000153779	ENST00000283891	T	0.62941	-0.01	1.76	1.76	0.24704	.	22.014000	0.00166	U	0.000000	T	0.56262	0.1973	L	0.55481	1.735	0.09310	N	1	P	0.39250	0.665	B	0.33750	0.169	T	0.49244	-0.8960	9	.	.	.	4.7716	7.0564	0.25102	0.0:0.0:0.0:1.0	.	39	Q8IUE1	TF2LX_HUMAN	E	39	ENSP00000355119:D39E	.	D	+	3	2	TGIF2LX	89063857	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.288000	0.18939	0.973000	0.38340	0.417000	0.27973	GAT		0.547	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		20	37	0	0	0	1	0	20	37				
LAMA3	3909	broad.mit.edu	37	18	21402283	21402284	+	Missense_Mutation	DNP	AC	AC	TT	rs371550637		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:21402283_21402284AC>TT	ENST00000313654.9	+	20	2613_2614	c.2372_2373AC>TT	c.(2371-2373)tAC>tTT	p.Y791F	LAMA3_ENST00000399516.3_Missense_Mutation_p.Y791F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	791					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)					ATTCTGAGATACGTTAACCCTG	0.381																																						ENST00000313654.9																			0				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						c.(2371-2373)tAc>tTc|c.(2371-2373)taC>taT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			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.chr18:21402283A>T|g.chr18:21402284C>T	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	Exception_encountered	18.37:g.21402283_21402284delinsTT	ENSP00000324532:p.Tyr791Phe					LAMA3_ENST00000399516.3_Missense_Mutation_p.Y791F|LAMA3_ENST00000399516.3_Silent_p.Y791Y	p.Y791F|p.Y791Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			20	2613|2614	+	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)		791					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation|Silent	SNP	ENST00000313654.9	37	c.2372A>T|c.2373C>T	CCDS42419.1																																																																																				0.381	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		24|25	59	0	0	0	1	0	24	59				
BAGE2	85319	broad.mit.edu	37	21	11039030	11039030	+	RNA	SNP	G	G	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr21:11039030G>T	ENST00000470054.1	-	0	1173							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCTCAATTGTAGGAGTCAT	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039030G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039030G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1173	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		36	503	1	0	2.19358e-23	1	2.393e-23	36	503				
RET	5979	broad.mit.edu	37	10	43595972	43595972	+	Missense_Mutation	SNP	G	G	A	rs529018971		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:43595972G>A	ENST00000355710.3	+	2	371	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	RET_ENST00000340058.5_Missense_Mutation_p.G47S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	47					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCAGGCAGCCGGCACGCCCTT	0.627		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				G|||	1	0.000199681	0.0	0.0	5008	,	,		12964	0.0		0.0	False		,,,				2504	0.001				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(139-141)Ggc>Agc		ret proto-oncogene	Sunitinib(DB01268)						78.0	68.0	72.0					10																	43595972		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43595972G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.139G>A	10.37:g.43595972G>A	ENSP00000347942:p.Gly47Ser					RET_ENST00000340058.5_Missense_Mutation_p.G47S	p.G47S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			2	371	+		Ovarian(717;0.0423)	47					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.139G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967383	0.53507	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	D;D	0.85013	-1.82;-1.93	5.51	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	L	0.37507	1.11	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;P	0.62382	0.798;0.901	D	0.87731	0.2579	10	0.54805	T	0.06	.	14.2031	0.65716	0.0728:0.0:0.9272:0.0	.	47;47	P07949;P07949-2	RET_HUMAN;.	S	47	ENSP00000347942:G47S;ENSP00000344798:G47S	ENSP00000344798:G47S	G	+	1	0	RET	42915978	1.000000	0.71417	0.254000	0.24359	0.003000	0.03518	4.012000	0.57131	1.346000	0.45694	-0.137000	0.14449	GGC		0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		26	7	0	0	0	1	0	26	7				
DPPA3	359787	broad.mit.edu	37	12	7867929	7867929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7867929G>A	ENST00000345088.2	+	2	350	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	78					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGATGAGTGGCTTTACAGC	0.478																																						ENST00000345088.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8						c.(232-234)tGg>tAg		developmental pluripotency associated 3							95.0	82.0	86.0					12																	7867929		2203	4300	6503	SO:0001587	stop_gained	359787					cytoplasm|nucleus		g.chr12:7867929G>A	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.233G>A	12.37:g.7867929G>A	ENSP00000339250:p.Trp78*						p.W78*	NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	2	350	+			78					Q0P5U3|Q6JZS6	Nonsense_Mutation	SNP	ENST00000345088.2	37	c.233G>A	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774189	0.31411	.	.	ENSG00000187569	ENST00000345088	.	.	.	2.06	-0.357	0.12579	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-1.0104	2.654	0.05007	0.0:0.1705:0.2876:0.5419	.	.	.	.	X	78	.	ENSP00000339250:W78X	W	+	2	0	DPPA3	7759196	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.696000	0.05104	-0.079000	0.12707	-0.525000	0.04345	TGG		0.478	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		13	24	0	0	0	1	0	13	24				
GAB2	9846	broad.mit.edu	37	11	77931439	77931439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:77931439G>A	ENST00000361507.4	-	9	1898	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	GAB2_ENST00000340149.2_Missense_Mutation_p.P567S	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	605					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTCTTCTTAGGGGCAGGACTG	0.577																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1813-1815)Cct>Tct		GRB2-associated binding protein 2							81.0	77.0	78.0					11																	77931439		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77931439G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1813C>T	11.37:g.77931439G>A	ENSP00000354952:p.Pro605Ser					GAB2_ENST00000340149.2_Missense_Mutation_p.P567S	p.P605S	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		9	1898	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		605					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1813C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781407	0.70222	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.21191	2.02;2.02	5.61	5.61	0.85477	.	0.149633	0.45867	U	0.000338	T	0.23014	0.0556	M	0.66939	2.045	0.52501	D	0.999958	P	0.39282	0.666	B	0.33339	0.162	T	0.02333	-1.1175	10	0.29301	T	0.29	-6.7027	15.5915	0.76534	0.0:0.0:0.8618:0.1382	.	605	Q9UQC2	GAB2_HUMAN	S	567;605	ENSP00000343959:P567S;ENSP00000354952:P605S	ENSP00000343959:P567S	P	-	1	0	GAB2	77609087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.214000	0.72200	2.793000	0.96121	0.655000	0.94253	CCT		0.577	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		26	37	0	0	0	1	0	26	37				
PBRM1	55193	broad.mit.edu	37	3	52651430	52651430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:52651430G>A	ENST00000296302.7	-	14	1667	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	PBRM1_ENST00000409057.1_Missense_Mutation_p.P556S|PBRM1_ENST00000410007.1_Missense_Mutation_p.P556S|PBRM1_ENST00000409767.1_Missense_Mutation_p.P571S|PBRM1_ENST00000409114.3_Missense_Mutation_p.P571S|PBRM1_ENST00000337303.4_Missense_Mutation_p.P556S|PBRM1_ENST00000356770.4_Missense_Mutation_p.P524S|PBRM1_ENST00000394830.3_Missense_Mutation_p.P556S			Q86U86	PB1_HUMAN	polybromo 1	556	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAATAATCAGGATAGTCCTTT	0.363			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1570-1572)Cct>Tct		polybromo 1							108.0	110.0	109.0					3																	52651430		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651430G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1666C>T	3.37:g.52651430G>A	ENSP00000296302:p.Pro556Ser					PBRM1_ENST00000296302.7_Missense_Mutation_p.P556S|PBRM1_ENST00000409114.3_Missense_Mutation_p.P571S|PBRM1_ENST00000394830.3_Missense_Mutation_p.P556S|PBRM1_ENST00000337303.4_Missense_Mutation_p.P556S|PBRM1_ENST00000409057.1_Missense_Mutation_p.P556S|PBRM1_ENST00000410007.1_Missense_Mutation_p.P556S|PBRM1_ENST00000409767.1_Missense_Mutation_p.P571S	p.P524S			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1572	-			556					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1570C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.059786	0.93846	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.988;0.998;0.995;0.999;0.999;0.997;0.997	T	0.72966	-0.4131	10	0.66056	D	0.02	-27.7119	20.139	0.98050	0.0:0.0:1.0:0.0	.	556;556;556;556;571;571;556;524;556	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	S	524;556;556;556;556;556;571;571;556;515	ENSP00000349213:P524S;ENSP00000378307:P556S;ENSP00000296302:P556S;ENSP00000338302:P556S;ENSP00000386593:P556S;ENSP00000386529:P556S;ENSP00000386643:P571S;ENSP00000386601:P571S;ENSP00000387775:P556S;ENSP00000397662:P515S	ENSP00000296302:P556S	P	-	1	0	PBRM1	52626470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.764000	0.94973	0.655000	0.94253	CCT		0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		22	38	0	0	0	1	0	22	38				
SLC24A3	57419	broad.mit.edu	37	20	19701644	19701644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:19701644G>A	ENST00000328041.6	+	17	1992	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	599					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTGTTCGGCGTCCACCTGAA	0.607																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1795-1797)Gtc>Atc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							168.0	124.0	139.0					20																	19701644		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19701644G>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1795G>A	20.37:g.19701644G>A	ENSP00000333519:p.Val599Ile						p.V599I	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			17	1992	+			599					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1795G>A	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	5.447	0.267520	0.10294	.	.	ENSG00000185052	ENST00000328041	T	0.62941	-0.01	4.81	4.81	0.61882	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	N	0.04746	-0.17	0.80722	D	1	P	0.40398	0.716	B	0.38683	0.279	T	0.41360	-0.9513	9	.	.	.	.	17.8307	0.88682	0.0:0.0:1.0:0.0	.	599	Q9HC58	NCKX3_HUMAN	I	599	ENSP00000333519:V599I	.	V	+	1	0	SLC24A3	19649644	1.000000	0.71417	0.876000	0.34364	0.942000	0.58702	6.659000	0.74412	2.378000	0.81104	0.557000	0.71058	GTC		0.607	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		4	44	0	0	0	1	0	4	44				
DPP3	10072	broad.mit.edu	37	11	66276620	66276620	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:66276620C>T	ENST00000360510.2	+	18	2177	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	DPP3_ENST00000530165.1_Silent_p.F674F|DPP3_ENST00000531863.1_Silent_p.F724F|BBS1_ENST00000393994.2_5'Flank|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000532677.1_Silent_p.F723F|BBS1_ENST00000455748.2_5'Flank|BBS1_ENST00000537537.1_5'Flank|DPP3_ENST00000541961.1_Silent_p.F704F|BBS1_ENST00000318312.7_5'Flank|DPP3_ENST00000453114.1_Silent_p.F704F			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	704					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGAGCGTTTCCCAGAGGATG	0.602																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2167-2169)ttC>ttT		dipeptidyl-peptidase 3							66.0	61.0	63.0					11																	66276620		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66276620C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.2112C>T	11.37:g.66276620C>T						DPP3_ENST00000530165.1_Silent_p.F674F|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000541961.1_Silent_p.F704F|DPP3_ENST00000453114.1_Silent_p.F704F|DPP3_ENST00000531863.1_Silent_p.F724F|DPP3_ENST00000360510.2_Silent_p.F704F	p.F723F	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			18	2570	+			704					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.2169C>T	CCDS8141.1																																																																																				0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			21	32	0	0	0	1	0	21	32				
SLC22A10	387775	broad.mit.edu	37	11	63064782	63064782	+	Nonsense_Mutation	SNP	C	C	T	rs111381363	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:63064782C>T	ENST00000332793.6	+	3	516	c.514C>T	c.(514-516)Cga>Tga	p.R172*	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Nonsense_Mutation_p.R17*|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	172						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CAGGTTTGGGCGAAGATTTAT	0.398													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17082	0.0		0.0	False		,,,				2504	0.0					ENST00000544661.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(49-51)Cga>Tga		solute carrier family 22, member 10		C	stop/ARG	21,4059		1,19,2020	166.0	161.0	162.0		514	-1.8	0.5	11	dbSNP_132	162	2,8420		0,2,4209	yes	stop-gained	SLC22A10	NM_001039752.3		1,21,6229	TT,TC,CC		0.0237,0.5147,0.184		172/542	63064782	23,12479	2040	4211	6251	SO:0001587	stop_gained	387775					integral to membrane	transmembrane transporter activity	g.chr11:63064782C>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.514C>T	11.37:g.63064782C>T	ENSP00000327569:p.Arg172*					SLC22A10_ENST00000332793.6_Nonsense_Mutation_p.R172*|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR	p.R17*			Q63ZE4	S22AA_HUMAN			4	477	+			172					Q68CJ0	Nonsense_Mutation	SNP	ENST00000332793.6	37	c.49C>T	CCDS41661.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	38	6.734941	0.97801	0.005147	2.37E-4	ENSG00000184999	ENST00000544661;ENST00000332793	.	.	.	3.26	-1.78	0.07957	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4233	0.55532	0.264:0.736:0.0:0.0	.	.	.	.	X	17;172	.	ENSP00000327569:R172X	R	+	1	2	SLC22A10	62821358	0.028000	0.19301	0.484000	0.27391	0.526000	0.34562	-0.667000	0.05274	-0.397000	0.07691	0.447000	0.29281	CGA		0.398	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		38	58	0	0	0	1	0	38	58				
HTR3A	3359	broad.mit.edu	37	11	113860240	113860240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:113860240C>T	ENST00000504030.2	+	9	1637	c.1192C>T	c.(1192-1194)Ccg>Tcg	p.P398S	HTR3A_ENST00000299961.5_Missense_Mutation_p.P383S|HTR3A_ENST00000535865.1_Missense_Mutation_p.P142S|HTR3A_ENST00000375498.2_Missense_Mutation_p.P404S|HTR3A_ENST00000506841.2_Missense_Mutation_p.P430S|HTR3A_ENST00000355556.2_Missense_Mutation_p.P436S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	398					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CGAGAAGAGCCCGAGGGACAG	0.637																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1192-1194)Ccg>Tcg		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						71.0	79.0	76.0					11																	113860240		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860240C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1192C>T	11.37:g.113860240C>T	ENSP00000424189:p.Pro398Ser					HTR3A_ENST00000299961.5_Missense_Mutation_p.P383S|HTR3A_ENST00000375498.2_Missense_Mutation_p.P404S|HTR3A_ENST00000535865.1_Missense_Mutation_p.P142S|HTR3A_ENST00000506841.2_Missense_Mutation_p.P430S|HTR3A_ENST00000355556.2_Missense_Mutation_p.P436S	p.P398S			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1637	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	398					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1192C>T		.	.	.	.	.	.	.	.	.	.	C	0.749	-0.773639	0.02951	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.4	-1.91	0.07641	.	0.913613	0.09452	N	0.800320	T	0.13457	0.0326	L	0.43152	1.355	0.09310	N	1	B;B;B	0.14438	0.01;0.005;0.01	B;B;B	0.22601	0.025;0.006;0.04	T	0.39921	-0.9590	10	0.18276	T	0.48	-9.4565	2.1902	0.03897	0.3629:0.372:0.1187:0.1464	.	383;436;404	B4DSY6;G5E986;Q7KZM7	.;.;.	S	398;436;404;430;142;383	ENSP00000424189:P398S;ENSP00000347754:P436S;ENSP00000364648:P404S;ENSP00000424776:P430S;ENSP00000437776:P142S;ENSP00000299961:P383S	ENSP00000299961:P383S	P	+	1	0	HTR3A	113365450	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.336000	0.07863	-0.177000	0.10690	-0.158000	0.13435	CCG		0.637	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		38	54	0	0	0	1	0	38	54				
BRD2	6046	broad.mit.edu	37	6	32947789	32947789	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:32947789T>A	ENST00000374825.4	+	11	3727	c.2026T>A	c.(2026-2028)Tta>Ata	p.L676I	BRD2_ENST00000395287.1_Missense_Mutation_p.L711I|BRD2_ENST00000374831.4_Missense_Mutation_p.L676I|BRD2_ENST00000443797.2_Missense_Mutation_p.L556I|BRD2_ENST00000449085.2_Missense_Mutation_p.L629I|BRD2_ENST00000395289.2_Missense_Mutation_p.L711I	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	676	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						GGAGCCCTCTTTACGTGATTC	0.483																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(2131-2133)Tta>Ata		bromodomain containing 2							65.0	64.0	65.0					6																	32947789		1510	2709	4219	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32947789T>A	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2026T>A	6.37:g.32947789T>A	ENSP00000363958:p.Leu676Ile					BRD2_ENST00000374831.4_Missense_Mutation_p.L676I|BRD2_ENST00000395287.1_Missense_Mutation_p.L711I|BRD2_ENST00000449085.2_Missense_Mutation_p.L629I|BRD2_ENST00000443797.2_Missense_Mutation_p.L556I|BRD2_ENST00000374825.4_Missense_Mutation_p.L676I	p.L711I			P25440	BRD2_HUMAN			12	3732	+			676			ET.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.2131T>A	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.364697	0.61513	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78	5.51	3.16	0.36331	.	0.000000	0.35870	N	0.002933	T	0.32071	0.0817	M	0.70903	2.155	0.58432	D	0.999991	D;D	0.69078	0.997;0.993	D;D	0.72625	0.978;0.952	T	0.08827	-1.0703	10	0.48119	T	0.1	-8.6018	7.2037	0.25895	0.0:0.2014:0.0:0.7986	.	711;676	A2AAU0;P25440	.;BRD2_HUMAN	I	676;676;711;556;711;629	ENSP00000363958:L676I;ENSP00000363964:L676I;ENSP00000378704:L711I;ENSP00000413495:L556I;ENSP00000378702:L711I;ENSP00000409145:L629I	ENSP00000363958:L676I	L	+	1	2	BRD2	33055767	0.990000	0.36364	1.000000	0.80357	0.992000	0.81027	2.625000	0.46452	1.123000	0.41961	0.523000	0.50628	TTA		0.483	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			14	33	0	0	0	1	0	14	33				
RANGRF	29098	broad.mit.edu	37	17	8192897	8192897	+	Missense_Mutation	SNP	A	A	G	rs200615633		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:8192897A>G	ENST00000226105.6	+	4	720	c.428A>G	c.(427-429)aAt>aGt	p.N143S	SLC25A35_ENST00000579192.1_3'UTR|RANGRF_ENST00000407006.4_Missense_Mutation_p.N143S|SLC25A35_ENST00000396278.1_3'UTR|RANGRF_ENST00000439238.3_3'UTR|SLC25A35_ENST00000380067.2_3'UTR|RANGRF_ENST00000580434.1_Intron|SLC25A35_ENST00000580340.1_3'UTR|SLC25A35_ENST00000581320.1_5'Flank	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	143					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein localization to cell surface (GO:2000010)|protein exit from endoplasmic reticulum (GO:0032527)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization (GO:0003254)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	guanyl-nucleotide exchange factor activity (GO:0005085)|ion channel binding (GO:0044325)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)|sodium channel regulator activity (GO:0017080)			endometrium(1)	1						CTTACCTTCAATCAGCCCCCG	0.567																																						ENST00000407006.4																			0				endometrium(1)	1						c.(427-429)aAt>aGt		RAN guanine nucleotide release factor							91.0	81.0	84.0					17																	8192897		2203	4300	6503	SO:0001583	missense	29098				protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity	g.chr17:8192897A>G	AF151070	CCDS11137.1, CCDS54086.1, CCDS54087.1	17p13	2014-05-09				ENSG00000108961			17679	protein-coding gene	gene with protein product	"""MOG1 homolog (S. cerevisiae)"""	607954				11290418	Standard	NM_016492		Approved	MOG1, HSPC165, HSPC236, RANGNRF	uc002gkv.3	Q9HD47		ENST00000226105.6:c.428A>G	17.37:g.8192897A>G	ENSP00000226105:p.Asn143Ser					SLC25A35_ENST00000580340.1_3'UTR|RANGRF_ENST00000580434.1_Intron|SLC25A35_ENST00000579192.1_3'UTR|RANGRF_ENST00000226105.6_Missense_Mutation_p.N143S|SLC25A35_ENST00000396278.1_3'UTR|SLC25A35_ENST00000380067.2_3'UTR|RANGRF_ENST00000439238.3_3'UTR	p.N143S	NM_001177801.1|NM_001177802.1	NP_001171272.1|NP_001171273.1	Q9HD47	MOG1_HUMAN			4	563	+			143					D3DTR6|Q68DI3|Q9BR68|Q9HD48|Q9NRU9|Q9P001|Q9P0P2	Missense_Mutation	SNP	ENST00000226105.6	37	c.428A>G	CCDS11137.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211537	0.58343	.	.	ENSG00000108961	ENST00000226105;ENST00000407006	D;D	0.82803	-1.65;-1.65	5.68	3.47	0.39725	Mog1/PsbP, alpha/beta/alpha sandwich (1);Mog1/PsbP/DUF1795, alpha/beta/alpha sandwich (1);	0.117691	0.53938	N	0.000042	T	0.78046	0.4222	L	0.56396	1.775	0.80722	D	1	B	0.22003	0.063	B	0.24541	0.054	T	0.71310	-0.4631	10	0.56958	D	0.05	-6.4934	7.3433	0.26650	0.8271:0.0:0.1729:0.0	.	143	Q9HD47	MOG1_HUMAN	S	143	ENSP00000226105:N143S;ENSP00000383940:N143S	ENSP00000226105:N143S	N	+	2	0	RANGRF	8133622	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.147000	0.42226	0.433000	0.26313	0.460000	0.39030	AAT		0.567	RANGRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442127.1	NM_016492		17	36	0	0	0	1	0	17	36				
LRRC4B	94030	broad.mit.edu	37	19	51020955	51020955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51020955G>A	ENST00000599957.1	-	3	2212	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A672V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	672					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCTGTAGTGCGCCTTGAAGGC	0.692																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(2014-2016)gCg>gTg		leucine rich repeat containing 4B							29.0	34.0	32.0					19																	51020955		1981	4140	6121	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51020955G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.2015C>T	19.37:g.51020955G>A	ENSP00000471502:p.Ala672Val					LRRC4B_ENST00000389201.3_Missense_Mutation_p.A672V	p.A672V			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	2212	-		all_neural(266;0.131)	672					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.2015C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873109	0.33069	.	.	ENSG00000131409	ENST00000389201	T	0.40756	1.02	2.62	2.62	0.31277	.	0.604578	0.12246	U	0.486046	T	0.28797	0.0714	L	0.42245	1.32	0.27859	N	0.940451	D	0.57257	0.979	B	0.33960	0.173	T	0.14117	-1.0484	10	0.38643	T	0.18	.	10.9802	0.47490	0.0:0.0:1.0:0.0	.	672	Q9NT99	LRC4B_HUMAN	V	672	ENSP00000373853:A672V	ENSP00000373853:A672V	A	-	2	0	LRRC4B	55712767	0.992000	0.36948	1.000000	0.80357	0.956000	0.61745	6.912000	0.75753	1.470000	0.48102	0.462000	0.41574	GCG		0.692	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		6	9	0	0	0	1	0	6	9				
UBL7	84993	broad.mit.edu	37	15	74751068	74751068	+	Silent	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:74751068A>G	ENST00000567435.1	-	2	604	c.141T>C	c.(139-141)atT>atC	p.I47I	UBL7_ENST00000564488.1_Silent_p.I47I|UBL7_ENST00000361351.4_Silent_p.I47I|UBL7-AS1_ENST00000499217.2_RNA|UBL7-AS1_ENST00000564621.1_RNA|UBL7_ENST00000395081.2_Silent_p.I47I|UBL7-AS1_ENST00000564137.1_RNA|UBL7-AS1_ENST00000567286.1_RNA|UBL7-AS1_ENST00000568853.1_RNA|UBL7_ENST00000565335.1_Silent_p.I47I			Q96S82	UBL7_HUMAN	ubiquitin-like 7	47	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTTTGCCAGCAATAAGCTGCT	0.502																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(139-141)atT>atC		ubiquitin-like 7 (bone marrow stromal cell-derived)							94.0	101.0	99.0					15																	74751068		2197	4296	6493	SO:0001819	synonymous_variant	84993						protein binding	g.chr15:74751068A>G	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.141T>C	15.37:g.74751068A>G						UBL7_ENST00000395081.2_Silent_p.I47I|UBL7_ENST00000565335.1_Silent_p.I47I|UBL7_ENST00000564488.1_Silent_p.I47I|UBL7_ENST00000361351.4_Silent_p.I47I	p.I47I			Q96S82	UBL7_HUMAN			2	604	-			47			Ubiquitin-like.		D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	c.141T>C	CCDS10263.1																																																																																				0.502	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		8	125	0	0	0	1	0	8	125				
ACE2	59272	broad.mit.edu	37	X	15580079	15580079	+	Silent	SNP	T	T	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:15580079T>C	ENST00000252519.3	-	18	2469	c.2367A>G	c.(2365-2367)ggA>ggG	p.G789G	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000427411.1_Silent_p.G789G			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	789					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)	GATTATTTTCTCCTTTGCTAA	0.323																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(2365-2367)ggA>ggG		angiotensin I converting enzyme 2	Moexipril(DB00691)						157.0	139.0	145.0					X																	15580079		2203	4300	6503	SO:0001819	synonymous_variant	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:15580079T>C	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.2367A>G	X.37:g.15580079T>C						ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Silent_p.G789G	p.G789G	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			19	2583	-	Hepatocellular(33;0.183)		789					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Silent	SNP	ENST00000252519.3	37	c.2367A>G	CCDS14169.1																																																																																				0.323	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			40	66	0	0	0	1	0	40	66				
FAM47C	442444	broad.mit.edu	37	X	37027911	37027911	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:37027911G>A	ENST00000358047.3	+	1	1480	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	476										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						ATCTCTGCCCGGAGCCTCCAG	0.622																																						ENST00000358047.3																			0				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						c.(1426-1428)ccG>ccA		family with sequence similarity 47, member C							65.0	62.0	63.0					X																	37027911		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027911G>A	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.1428G>A	X.37:g.37027911G>A							p.P476P	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1480	+			476					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1428G>A	CCDS35227.1																																																																																				0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		19	37	0	0	0	1	0	19	37				
ITCH	83737	broad.mit.edu	37	20	33068913	33068913	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:33068913C>T	ENST00000262650.6	+	21	2254	c.2118C>T	c.(2116-2118)tcC>tcT	p.S706S	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.S555S|ITCH_ENST00000374864.4_Silent_p.S665S			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	706	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGTACTTCTCCGTTGACAAAG	0.313																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1993-1995)tcC>tcT		itchy E3 ubiquitin protein ligase							115.0	117.0	116.0					20																	33068913		2203	4299	6502	SO:0001819	synonymous_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33068913C>T	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2118C>T	20.37:g.33068913C>T						ITCH_ENST00000262650.6_Silent_p.S706S|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.S555S	p.S665S	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			20	2208	+			706			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	c.1995C>T	CCDS58768.1																																																																																				0.313	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			33	68	0	0	0	1	0	33	68				
AIM2	9447	broad.mit.edu	37	1	159032502	159032504	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:159032502_159032504delTAA	ENST00000368130.4	-	6	1298_1300	c.1010_1012delTTA	c.(1009-1014)attaag>aag	p.I337del		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	337	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTGGCCTTAATAACCTGGAT	0.399																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(1009-1014)aag>a		absent in melanoma 2																																				SO:0001651	inframe_deletion	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159032502_159032504delTAA	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.1010_1012delTTA	1.37:g.159032505_159032507delTAA	ENSP00000357112:p.Ile337del						p.IK337del	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			6	1298_1300	-	all_hematologic(112;0.0429)		337			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	In_Frame_Del	DEL	ENST00000368130.4	37	c.1010_1012delTTA	CCDS1181.1																																																																																				0.399	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		17	54						17	54	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650|rs11408894|rs535957758	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		GACTCTTTTTTAAAAAAACAGG	0.45														60	0.0119808	0.0106	0.0072	5008	,	,		19441	0.0149		0.0219	False		,,,				2504	0.0041					ENST00000390453.1																			0																																																			0							g.chr14:22573825_22573826insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573832_22573832dupA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		4	7						4	7	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66131384	66131384	+	RNA	DEL	T	T	-			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:66131384delT	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		TGCCAGGTGCTTCATGGGCTC	0.587																																						ENST00000590019.1																			0																																																			0							g.chr17:66131384delT			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66131384delT														0	298	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.587	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			2	4						2	4	---	---	---	---
