#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
SMARCA4	6597	broad.mit.edu	37	19	11143966	11143966	+	Splice_Site	SNP	G	G	C			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:11143966G>C	ENST00000429416.3	+	27	3828	c.3547G>C	c.(3547-3549)Gac>Cac	p.D1183H	SMARCA4_ENST00000541122.2_Splice_Site_p.D1183H|SMARCA4_ENST00000344626.4_Splice_Site_p.D1183H|SMARCA4_ENST00000589677.1_Splice_Site_p.D1183H|SMARCA4_ENST00000444061.3_Splice_Site_p.D1183H|SMARCA4_ENST00000358026.2_Splice_Site_p.D1183H|SMARCA4_ENST00000413806.3_Splice_Site_p.D1183H|SMARCA4_ENST00000590574.1_Splice_Site_p.D1183H|SMARCA4_ENST00000450717.3_Splice_Site_p.D1183H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1183	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTTCCCCCAGGACCTGCAAGC	0.627			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.e26-1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							41.0	42.0	42.0					19																	11143966		2203	4298	6501	SO:0001630	splice_region_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143966G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3547-1G>C	19.37:g.11143966G>C						SMARCA4_ENST00000344626.4_Splice_Site_p.D1183_splice|SMARCA4_ENST00000589677.1_Splice_Site_p.D1183_splice|SMARCA4_ENST00000444061.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000590574.1_Splice_Site_p.D1183_splice|SMARCA4_ENST00000413806.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000429416.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000450717.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000541122.2_Splice_Site_p.D1183_splice	p.D1183_splice	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3831	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1183			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Splice_Site	SNP	ENST00000429416.3	37	c.3546_splice	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915293	0.73098	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.94847	0.8010	9	.	.	.	-56.3457	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1183;1183;1183;1183;1183;403;1183	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1183;1183;1247;1183;1183;1183;1183;1183	ENSP00000395654:D1183H;ENSP00000350720:D1183H;ENSP00000343896:D1183H;ENSP00000445036:D1183H;ENSP00000392837:D1183H;ENSP00000397783:D1183H;ENSP00000414727:D1183H	.	D	+	1	0	SMARCA4	11004966	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	GAC		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	Missense_Mutation	4	65	0	0	0	1	0	4	65				
LRRC37A16P	651250	broad.mit.edu	37	17	66131701	66131701	+	RNA	SNP	T	T	C	rs7222953	byFrequency	TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:66131701T>C	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		CACTGACCAGTTGGCTCGCCT	0.617													T|||	234	0.0467252	0.0038	0.0202	5008	,	,		15813	0.0427		0.0845	False		,,,				2504	0.089					ENST00000590019.1																			0																																																			0							g.chr17:66131701T>C			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66131701T>C														0	298	-									RNA	SNP	ENST00000590019.1	37																																																																																						0.617	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			6	72	0	0	0	1	0	6	72				
RAB33B	83452	broad.mit.edu	37	4	140375591	140375591	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:140375591G>A	ENST00000305626.5	+	1	631	c.242G>A	c.(241-243)cGc>cAc	p.R81H	RP11-83A24.2_ENST00000610159.1_RNA|RP11-83A24.2_ENST00000608663.1_RNA|RP11-83A24.2_ENST00000609359.1_RNA|RP11-83A24.2_ENST00000608661.1_RNA	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	81					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GATGGGGAGCGCATCAAGGTG	0.652																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(241-243)cGc>cAc		RAB33B, member RAS oncogene family							47.0	43.0	45.0					4																	140375591		2203	4300	6503	SO:0001583	missense	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140375591G>A	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.242G>A	4.37:g.140375591G>A	ENSP00000306496:p.Arg81His						p.R81H	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN			1	631	+	all_hematologic(180;0.162)		81					B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	c.242G>A	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612724	0.66672	.	.	ENSG00000172007	ENST00000305626	T	0.77098	-1.07	5.31	4.41	0.53225	Small GTP-binding protein domain (1);	0.105732	0.64402	D	0.000014	T	0.67325	0.2881	L	0.40543	1.245	0.45427	D	0.998402	P	0.45569	0.861	B	0.38842	0.283	T	0.71417	-0.4599	10	0.56958	D	0.05	.	11.001	0.47604	0.0729:0.1303:0.7968:0.0	.	81	Q9H082	RB33B_HUMAN	H	81	ENSP00000306496:R81H	ENSP00000306496:R81H	R	+	2	0	RAB33B	140595041	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.950000	0.49081	2.635000	0.89317	0.563000	0.77884	CGC		0.652	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		3	34	0	0	0	1	0	3	34				
TLR3	7098	broad.mit.edu	37	4	187000075	187000075	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:187000075G>C	ENST00000296795.3	+	3	627	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	175					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAATCTCCAAGAGCTTCTATT	0.313																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(523-525)Gag>Cag		toll-like receptor 3							41.0	47.0	45.0					4																	187000075		2202	4299	6501	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187000075G>C	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.523G>C	4.37:g.187000075G>C	ENSP00000296795:p.Glu175Gln						p.E175Q	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	3	627	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	175					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.523G>C	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616723	0.66672	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.59638	0.31;0.25	5.48	4.59	0.56863	.	0.370309	0.34156	N	0.004210	T	0.48768	0.1518	L	0.45137	1.4	0.80722	D	1	P	0.39282	0.666	B	0.33799	0.17	T	0.56811	-0.7917	10	0.56958	D	0.05	.	15.736	0.77842	0.0:0.1366:0.8634:0.0	.	175	O15455	TLR3_HUMAN	Q	175	ENSP00000296795:E175Q;ENSP00000423386:E175Q	ENSP00000296795:E175Q	E	+	1	0	TLR3	187237069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.201000	0.51059	2.573000	0.86826	0.650000	0.86243	GAG		0.313	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			23	30	0	0	0	1	0	23	30				
CPT1A	1374	broad.mit.edu	37	11	68542876	68542876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr11:68542876G>A	ENST00000265641.5	-	13	1637	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000537756.2_5'Flank	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	495					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TAGCCCAGCTGGAGGCTGTCA	0.483																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1483-1485)Cag>Tag		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						128.0	113.0	118.0					11																	68542876		2200	4294	6494	SO:0001587	stop_gained	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68542876G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1483C>T	11.37:g.68542876G>A	ENSP00000265641:p.Gln495*					CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q495*	p.Q495*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		13	1637	-	Esophageal squamous(3;3.28e-14)		495					Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	ENST00000265641.5	37	c.1483C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660375	0.88154	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	.	.	.	5.12	4.14	0.48551	.	0.252005	0.40469	N	0.001095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	12.999	0.58664	0.0:0.3499:0.6501:0.0	.	.	.	.	X	495	.	ENSP00000265641:Q495X	Q	-	1	0	CPT1A	68299452	0.948000	0.32251	0.989000	0.46669	0.362000	0.29581	2.300000	0.43620	2.550000	0.86006	0.478000	0.44815	CAG		0.483	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		51	84	0	0	0	1	0	51	84				
FBN3	84467	broad.mit.edu	37	19	8131054	8131054	+	Missense_Mutation	SNP	G	G	A	rs199602063		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:8131054G>A	ENST00000600128.1	-	64	8593	c.8179C>T	c.(8179-8181)Cgg>Tgg	p.R2727W	FBN3_ENST00000601739.1_Missense_Mutation_p.R2727W|FBN3_ENST00000270509.2_Missense_Mutation_p.R2727W			Q75N90	FBN3_HUMAN	fibrillin 3	2727						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCCGGCCGGAGCTCCAGG	0.652																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(8179-8181)Cgg>Tgg		fibrillin 3		G	TRP/ARG	0,4396		0,0,2198	24.0	24.0	24.0		8179	-1.7	0.0	19		24	1,8591		0,1,4295	no	missense	FBN3	NM_032447.3	101	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2727/2810	8131054	1,12987	2198	4296	6494	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8131054G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8179C>T	19.37:g.8131054G>A	ENSP00000470498:p.Arg2727Trp					FBN3_ENST00000270509.2_Missense_Mutation_p.R2727W|FBN3_ENST00000601739.1_Missense_Mutation_p.R2727W	p.R2727W			Q75N90	FBN3_HUMAN			64	8593	-			2727					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.8179C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198601	0.38806	0.0	1.16E-4	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87334	-2.24	4.66	-1.68	0.08212	.	0.414440	0.21774	U	0.069319	T	0.78432	0.4282	L	0.50333	1.59	0.21933	N	0.99947	B;B	0.21688	0.059;0.008	B;B	0.11329	0.006;0.002	T	0.66069	-0.6015	10	0.56958	D	0.05	.	4.7777	0.13187	0.2182:0.0:0.5245:0.2573	.	2727;790	Q75N90;Q6ZNB8	FBN3_HUMAN;.	W	2727;790	ENSP00000270509:R2727W	ENSP00000270509:R2727W	R	-	1	2	FBN3	8037054	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	1.193000	0.32162	-0.369000	0.08028	-1.057000	0.02308	CGG		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	45	0	0	0	1	0	7	45				
KANK2	25959	broad.mit.edu	37	19	11287442	11287442	+	Silent	SNP	G	G	A	rs552559422		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:11287442G>A	ENST00000586659.1	-	7	1886	c.1572C>T	c.(1570-1572)aaC>aaT	p.N524N	KANK2_ENST00000589359.1_Silent_p.N532N|KANK2_ENST00000589894.1_Silent_p.N524N|KANK2_ENST00000355150.5_Silent_p.N524N|KANK2_ENST00000432929.2_Silent_p.N532N			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	524					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGTGCTGTCGTTGTCTGAGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17714	0.0		0.0	False		,,,				2504	0.001					ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1594-1596)aaC>aaT		KN motif and ankyrin repeat domains 2							102.0	89.0	94.0					19																	11287442		2203	4300	6503	SO:0001819	synonymous_variant	25959							g.chr19:11287442G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1572C>T	19.37:g.11287442G>A						KANK2_ENST00000355150.5_Silent_p.N524N|KANK2_ENST00000586659.1_Silent_p.N524N|KANK2_ENST00000589359.1_Silent_p.N532N|KANK2_ENST00000589894.1_Silent_p.N524N	p.N532N	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			7	1956	-			524					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.1596C>T	CCDS12255.1																																																																																				0.637	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		6	88	0	0	0	1	0	6	88				
MYH1	4619	broad.mit.edu	37	17	10419832	10419832	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:10419832G>T	ENST00000226207.5	-	3	222	c.128C>A	c.(127-129)cCt>cAt	p.P43H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	43					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGACTCCTTAGGGTCCACCAC	0.517																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(127-129)cCt>cAt		myosin, heavy chain 1, skeletal muscle, adult							177.0	166.0	170.0					17																	10419832		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419832G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.128C>A	17.37:g.10419832G>T	ENSP00000226207:p.Pro43His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.P43H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			3	222	-			43			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.128C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261924	0.39995	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.83506	-1.73	5.5	4.53	0.55603	Myosin, N-terminal, SH3-like (1);	0.804783	0.10409	U	0.678108	D	0.91788	0.7402	M	0.85945	2.785	0.09310	N	1	B	0.25206	0.12	P	0.49140	0.601	D	0.85403	0.1132	10	0.56958	D	0.05	.	15.9411	0.79754	0.0:0.0:0.8642:0.1358	.	43	P12882	MYH1_HUMAN	H	43	ENSP00000226207:P43H	ENSP00000226207:P43H	P	-	2	0	MYH1	10360557	0.990000	0.36364	0.028000	0.17463	0.277000	0.26821	6.541000	0.73865	1.546000	0.49388	0.655000	0.94253	CCT		0.517	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		10	274	1	0	2.17888e-05	1	2.42097e-05	10	274				
CCT6P3	643180	broad.mit.edu	37	7	64498755	64498755	+	RNA	SNP	G	G	C	rs182969532	byFrequency	TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:64498755G>C	ENST00000426828.1	+	0	18					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		gcaggatggcgacggcCGTCC	0.746													.|||	593	0.118411	0.0144	0.1571	5008	,	,		4197	0.0069		0.3121	False		,,,				2504	0.1472					ENST00000426828.1																			0																																																			0							g.chr7:64498755G>C			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498755G>C								NR_033416.1						0	18	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.746	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			7	5	0	0	0	1	0	7	5				
OR2T27	403239	broad.mit.edu	37	1	248813300	248813300	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr1:248813300C>T	ENST00000344889.3	-	1	885	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGTGACATCCTTGTTCCTA	0.463																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(886-888)Gat>Aat		olfactory receptor, family 2, subfamily T, member 27							74.0	75.0	75.0					1																	248813300		2170	4270	6440	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813300C>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.886G>A	1.37:g.248813300C>T	ENSP00000342008:p.Asp296Asn						p.D296N	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	885	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	296						Missense_Mutation	SNP	ENST00000344889.3	37	c.886G>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	13.18	2.159402	0.38119	.	.	ENSG00000187701	ENST00000344889	T	0.38077	1.16	3.3	3.3	0.37823	.	0.000000	0.40818	N	0.001007	T	0.54351	0.1853	M	0.88979	2.995	0.26993	N	0.965109	P	0.42409	0.779	P	0.48770	0.589	T	0.56637	-0.7946	10	0.59425	D	0.04	.	13.8339	0.63398	0.0:1.0:0.0:0.0	.	296	Q8NH04	O2T27_HUMAN	N	296	ENSP00000342008:D296N	ENSP00000342008:D296N	D	-	1	0	OR2T27	246879923	0.983000	0.35010	0.971000	0.41717	0.107000	0.19398	3.372000	0.52387	1.829000	0.53265	0.407000	0.27541	GAT		0.463	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		6	115	0	0	0	1	0	6	115				
ENTHD2	146705	broad.mit.edu	37	17	79207838	79207838	+	Silent	SNP	C	C	G			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:79207838C>G	ENST00000300714.3	-	5	375	c.318G>C	c.(316-318)ggG>ggC	p.G106G	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_5'UTR	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	106	ENTH.					cytoplasmic vesicle (GO:0031410)											GATCTGGGGGCCCTGCAAAAG	0.677																																						ENST00000300714.3																			0											c.(316-318)ggG>ggC		ENTH domain containing 2							22.0	24.0	23.0					17																	79207838		2202	4300	6502	SO:0001819	synonymous_variant	146705							g.chr17:79207838C>G	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.318G>C	17.37:g.79207838C>G						ENTHD2_ENST00000374769.2_5'UTR	p.G106G	NM_144679.2	NP_653280.1					5	375	-								Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	c.318G>C	CCDS11779.1																																																																																				0.677	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		3	21	0	0	0	1	0	3	21				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		48	72	0	0	0	1	0	48	72				
PNMA3	29944	broad.mit.edu	37	X	152225805	152225805	+	Silent	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:152225805G>A	ENST00000370264.4	+	1	419	c.393G>A	c.(391-393)tcG>tcA	p.S131S	PNMA3_ENST00000370265.4_Silent_p.S131S|PNMA3_ENST00000447306.1_Silent_p.S131S			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	131					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ccaattgttcggctccaagag	0.532													G|||	1	0.000264901	0.0	0.0	3775	,	,		13137	0.0		0.0	False		,,,				2504	0.001					ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(391-393)tcG>tcA		paraneoplastic Ma antigen 3							41.0	42.0	42.0					X																	152225805		2203	4300	6503	SO:0001819	synonymous_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225805G>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.393G>A	X.37:g.152225805G>A						PNMA3_ENST00000370264.4_Silent_p.S131S|PNMA3_ENST00000370265.4_Silent_p.S131S	p.S131S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	729	+	Acute lymphoblastic leukemia(192;6.56e-05)		131					D3DWT7|Q9H0A4	Silent	SNP	ENST00000370264.4	37	c.393G>A	CCDS35435.2																																																																																				0.532	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		20	73	0	0	0	1	0	20	73				
C19orf52	90580	broad.mit.edu	37	19	11040151	11040151	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:11040151G>T	ENST00000270502.6	+	2	646	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	YIPF2_ENST00000586748.1_5'Flank|YIPF2_ENST00000590329.1_5'Flank|YIPF2_ENST00000253031.2_5'Flank	NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	186										prostate(1)	1						CGACATCAACGACGACGAATT	0.672																																						ENST00000270502.6																			0				prostate(1)	1						c.(556-558)Gac>Tac		chromosome 19 open reading frame 52							29.0	33.0	32.0					19																	11040151		2202	4299	6501	SO:0001583	missense	90580							g.chr19:11040151G>T	BC011833	CCDS12252.1	19p13.2	2011-11-24			ENSG00000142444	ENSG00000142444			25152	protein-coding gene	gene with protein product						12477932	Standard	NM_138358		Approved		uc002mqd.2	Q9BSF4		ENST00000270502.6:c.556G>T	19.37:g.11040151G>T	ENSP00000270502:p.Asp186Tyr						p.D186Y	NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN			2	646	+			186					Q96EY6|Q96IT8	Missense_Mutation	SNP	ENST00000270502.6	37	c.556G>T	CCDS12252.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943280	0.53079	.	.	ENSG00000142444	ENST00000270502	.	.	.	4.55	3.48	0.39840	.	0.059683	0.64402	D	0.000004	T	0.52693	0.1750	L	0.50333	1.59	0.47698	D	0.999496	P	0.40211	0.707	B	0.39339	0.297	T	0.59653	-0.7414	9	0.66056	D	0.02	-22.8904	13.6831	0.62499	0.0:0.1564:0.8436:0.0	.	186	Q9BSF4	CS052_HUMAN	Y	186	.	ENSP00000270502:D186Y	D	+	1	0	C19orf52	10901151	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	4.971000	0.63749	1.225000	0.43566	0.655000	0.94253	GAC		0.672	C19orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452635.1	NM_138358		6	78	1	0	0.00116845	1	0.00120874	6	78				
PEG3	5178	broad.mit.edu	37	19	57326078	57326078	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:57326078C>A	ENST00000326441.9	-	10	4095	c.3732G>T	c.(3730-3732)atG>atT	p.M1244I	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.M1120I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1244I|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.M1118I|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1244					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGAAGTCTCATATGCTCAT	0.498																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3730-3732)atG>atT		paternally expressed 3							51.0	46.0	48.0					19																	57326078		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326078C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3732G>T	19.37:g.57326078C>A	ENSP00000326581:p.Met1244Ile					ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1244I|PEG3_ENST00000593695.1_Missense_Mutation_p.M1118I|PEG3_ENST00000598410.1_Missense_Mutation_p.M1120I|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	p.M1244I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	4095	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1244					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3732G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694189	0.48202	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.28255	1.62;1.62	4.06	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.358389	0.24388	N	0.038942	T	0.32010	0.0815	L	0.46885	1.475	.	.	.	B;P;P	0.49307	0.149;0.856;0.922	B;P;P	0.46718	0.103;0.525;0.525	T	0.51639	-0.8680	9	0.56958	D	0.05	-6.8134	12.3223	0.54991	0.0:0.6501:0.3499:0.0	.	1120;1244;1179	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	1244	ENSP00000326581:M1244I;ENSP00000403051:M1244I	ENSP00000326581:M1244I	M	-	3	0	ZIM2	62017890	0.000000	0.05858	0.002000	0.10522	0.887000	0.51463	0.755000	0.26405	0.646000	0.30693	0.655000	0.94253	ATG		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			11	81	1	0	4.68919e-08	1	5.4106e-08	11	81				
RB1	5925	broad.mit.edu	37	13	49039407	49039407	+	Missense_Mutation	SNP	C	C	T	rs187912365	byFrequency	TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr13:49039407C>T	ENST00000267163.4	+	23	2530	c.2392C>T	c.(2392-2394)Cgg>Tgg	p.R798W		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	798	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R798fs*17(1)|p.R798W(1)|p.L797fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCACCCTTACGGATTCCTGG	0.408		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			C|||	4	0.000798722	0.0	0.0043	5008	,	,		14619	0.0		0.001	False		,,,				2504	0.0					ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		29	Whole gene deletion(15)|Unknown(11)|Substitution - Missense(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.0?(15)|p.?(11)|p.R798fs*17(1)|p.R798W(1)|p.L797fs*1(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|eye(2)|ovary(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2392-2394)Cgg>Tgg		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	128.0	130.0	129.0		2392	4.1	1.0	13		129	0,8600		0,0,4300	yes	missense	RB1	NM_000321.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	798/929	49039407	1,13005	2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039407C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2392C>T	13.37:g.49039407C>T	ENSP00000267163:p.Arg798Trp	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R798W	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2530	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	798			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2392C>T	CCDS31973.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	21.0	4.075938	0.76415	2.27E-4	0.0	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.85955	-2.05	5.87	4.1	0.47936	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	L	0.54323	1.7	0.52501	D	0.999954	D	0.89917	1.0	D	0.91635	0.999	D	0.88501	0.3082	10	0.87932	D	0	.	13.9886	0.64350	0.3981:0.6019:0.0:0.0	.	798	P06400	RB_HUMAN	W	777;798	ENSP00000267163:R798W	ENSP00000267163:R798W	R	+	1	2	RB1	47937408	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.350000	0.59392	0.780000	0.33566	0.591000	0.81541	CGG		0.408	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			24	161	0	0	0	1	0	24	161				
MYLK	4638	broad.mit.edu	37	3	123345699	123345699	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:123345699C>T	ENST00000475616.1	-	28	5203	c.5204G>A	c.(5203-5205)cGg>cAg	p.R1735Q	MYLK_ENST00000360304.3_Missense_Mutation_p.R1735Q|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.R535Q|MYLK_ENST00000346322.5_Missense_Mutation_p.R1666Q|MYLK_ENST00000359169.1_Missense_Mutation_p.R1684Q|MYLK_ENST00000418370.2_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.R1684Q|MYLK-AS1_ENST00000463408.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1735	Calmodulin-binding.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCTTCATCCGGTCCTTGGA	0.493																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5050-5052)cGg>cAg		myosin light chain kinase							196.0	144.0	162.0					3																	123345699		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123345699C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5204G>A	3.37:g.123345699C>T	ENSP00000418335:p.Arg1735Gln					MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.R1735Q|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.R1735Q|MYLK_ENST00000359169.1_Missense_Mutation_p.R1684Q|MYLK_ENST00000354792.5_Missense_Mutation_p.R535Q|MYLK_ENST00000346322.5_Missense_Mutation_p.R1666Q	p.R1684Q			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	31	5429	-		Lung NSC(201;0.0496)	1735			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5051G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663878	0.96745	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66280	-0.14;-0.2;-0.14;-0.19;0.05;-0.2	5.22	5.22	0.72569	Protein kinase-like domain (1);	.	.	.	.	T	0.75302	0.3831	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.979;0.998;0.997	T	0.76677	-0.2871	9	0.72032	D	0.01	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	1735;1615;1684;1666;1735	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	Q	1684;1735;1684;1666;535;1735	ENSP00000354004:R1684Q;ENSP00000353452:R1735Q;ENSP00000352088:R1684Q;ENSP00000320622:R1666Q;ENSP00000346846:R535Q;ENSP00000418335:R1735Q	ENSP00000320622:R1666Q	R	-	2	0	MYLK	124828389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.339000	0.79282	2.732000	0.93576	0.591000	0.81541	CGG		0.493	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		13	105	0	0	0	1	0	13	105				
DLGAP2	9228	broad.mit.edu	37	8	1497669	1497669	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr8:1497669G>C	ENST00000421627.2	+	2	944	c.810G>C	c.(808-810)aaG>aaC	p.K270N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	349					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGACGTCAAGTGCTCGGCCT	0.672																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(808-810)aaG>aaC		discs, large (Drosophila) homolog-associated protein 2							40.0	46.0	44.0					8																	1497669		2150	4268	6418	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497669G>C	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.810G>C	8.37:g.1497669G>C	ENSP00000400258:p.Lys270Asn						p.K270N	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	944	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	349					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.810G>C	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.38|13.38	2.220408|2.220408	0.39201|0.39201	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.18502|.	2.21|.	5.3|5.3	3.14|3.14	0.36123|0.36123	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76737|0.76737	0.4029|0.4029	M|M	0.88031|0.88031	2.925|2.925	0.35686|0.35686	D|D	0.814454|0.814454	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.997|.	T|T	0.82768|0.82768	-0.0294|-0.0294	10|5	0.87932|.	D|.	0|.	-18.4374|-18.4374	11.2755|11.2755	0.49163|0.49163	0.3078:0.0:0.6922:0.0|0.3078:0.0:0.6922:0.0	.|.	349;349|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	N|T	315;270|287	ENSP00000400258:K270N|.	ENSP00000348366:K315N|.	K|S	+|+	3|2	2|0	DLGAP2|DLGAP2	1485076|1485076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.379000|0.379000	0.30106|0.30106	1.291000|1.291000	0.33330|0.33330	0.618000|0.618000	0.30179|0.30179	-0.797000|-0.797000	0.03246|0.03246	AAG|AGT		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		5	102	0	0	0	1	0	5	102				
LMOD1	25802	broad.mit.edu	37	1	201868633	201868633	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr1:201868633G>A	ENST00000367288.4	-	2	1754	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	503					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTAGCCACGGCCCCGGCCTT	0.582																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1507-1509)gCc>gTc		leiomodin 1 (smooth muscle)							47.0	50.0	49.0					1																	201868633		1958	4134	6092	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868633G>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1508C>T	1.37:g.201868633G>A	ENSP00000356257:p.Ala503Val					RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	p.A503V	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	1754	-			503					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.1508C>T	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	6.579	0.475137	0.12521	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.23348	1.91	4.52	1.34	0.21922	.	0.591551	0.14085	N	0.342456	T	0.12178	0.0296	N	0.16790	0.44	0.09310	N	1	P;P	0.36222	0.544;0.544	B;B	0.33339	0.116;0.162	T	0.19484	-1.0304	10	0.25751	T	0.34	-5.1925	5.7796	0.18299	0.191:0.1611:0.6479:0.0	.	452;503	B4E3S9;P29536	.;LMOD1_HUMAN	V	503;503;452	ENSP00000356257:A503V	ENSP00000356257:A503V	A	-	2	0	LMOD1	200135256	0.033000	0.19621	0.023000	0.16930	0.117000	0.20001	2.175000	0.42491	0.435000	0.26365	-0.136000	0.14681	GCC		0.582	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			4	37	0	0	0	1	0	4	37				
DLEC1	9940	broad.mit.edu	37	3	38158122	38158122	+	Silent	SNP	G	G	A	rs114701641	byFrequency	TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:38158122G>A	ENST00000308059.6	+	28	4056	c.4035G>A	c.(4033-4035)tcG>tcA	p.S1345S	DLEC1_ENST00000452631.2_Silent_p.S1348S|DLEC1_ENST00000346219.3_Silent_p.S1345S					deleted in lung and esophageal cancer 1									p.S1345S(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGTTCATCGGAATTCAGCC	0.627													G|||	78	0.0155751	0.0325	0.0144	5008	,	,		17800	0.0069		0.0139	False		,,,				2504	0.0041					ENST00000308059.6																			3	Substitution - coding silent(3)	p.S1345S(3)	pancreas(2)|ovary(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4033-4035)tcG>tcA		deleted in lung and esophageal cancer 1		G	,	100,3792		0,100,1846	62.0	61.0	61.0		4035,4035	-9.6	0.0	3	dbSNP_132	61	133,8139		0,133,4003	yes	coding-synonymous,coding-synonymous	DLEC1	NM_007335.2,NM_007337.2	,	0,233,5849	AA,AG,GG		1.6078,2.5694,1.9155	,	1345/1756,1345/1779	38158122	233,11931	1946	4136	6082	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158122G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4035G>A	3.37:g.38158122G>A						DLEC1_ENST00000452631.2_Silent_p.S1348S|DLEC1_ENST00000346219.3_Silent_p.S1345S	p.S1345S			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	4056	+			1345						Silent	SNP	ENST00000308059.6	37	c.4035G>A	CCDS2672.2																																																																																				0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		6	123	0	0	0	1	0	6	123				
WASH2P	375260	broad.mit.edu	37	2	114356221	114356221	+	RNA	SNP	C	C	T	rs3087934	byFrequency	TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr2:114356221C>T	ENST00000538033.2	+	0	2401							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GTGAGGGGCCCGGAGGAGCCT	0.657																																						ENST00000538033.2																			0																																																			0							g.chr2:114356221C>T			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114356221C>T														0	2401	+									RNA	SNP	ENST00000538033.2	37																																																																																						0.657	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		2	7	0	0	0	1	0	2	7				
PCDHB6	56130	broad.mit.edu	37	5	140531054	140531054	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:140531054G>A	ENST00000231136.1	+	1	1216	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A270T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGAAGGCGCGCTGGACAG	0.483																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1216-1218)Gcg>Acg									112.0	114.0	114.0					5																	140531054		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531054G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1216G>A	5.37:g.140531054G>A	ENSP00000231136:p.Ala406Thr					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A270T	p.A406T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1216	+			406			Cadherin 4.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1216G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299858	0.05532	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.02682	4.2;4.2	4.59	-1.37	0.09056	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03136	0.0092	L	0.41079	1.255	0.09310	N	1	B	0.25521	0.128	B	0.21917	0.037	T	0.36601	-0.9741	9	0.42905	T	0.14	.	11.1183	0.48273	0.0:0.4571:0.3088:0.2341	.	406	Q9Y5E3	PCDB6_HUMAN	T	270;406;191	ENSP00000438466:A270T;ENSP00000231136:A406T	ENSP00000231136:A406T	A	+	1	0	PCDHB6	140511238	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.879000	0.00716	-0.570000	0.06022	0.561000	0.74099	GCG		0.483	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		15	161	0	0	0	1	0	15	161				
CATSPER2P1	440278	broad.mit.edu	37	15	44028683	44028683	+	RNA	SNP	C	C	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr15:44028683C>A	ENST00000381680.2	-	0	1101				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		cactatacttcaacttgttca	0.328																																						ENST00000381680.2																			0																																																			0							g.chr15:44028683C>A	BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028683C>A								NR_002318.2						0	1101	-									RNA	SNP	ENST00000381680.2	37																																																																																						0.328	CATSPER2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000133242.1	NR_002318		5	11	1	0	0.000602214	1	0.00063391	5	11				
URM1	81605	broad.mit.edu	37	9	131133623	131133623	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr9:131133623G>A	ENST00000372853.4	+	0	26				URM1_ENST00000452446.1_De_novo_Start_InFrame|URM1_ENST00000372850.1_5'Flank|URM1_ENST00000372847.1_5'Flank	NM_001265582.1|NM_030914.3	NP_001252511.1|NP_112176.1			ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CGCGCCGGAAGTTGAGGGGAG	0.657																																						ENST00000452446.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5								ubiquitin related modifier 1							30.0	32.0	31.0					9																	131133623		2203	4300	6503			81605				tRNA thio-modification|tRNA wobble uridine modification		protein binding	g.chr9:131133623G>A	AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"""chromosome 9 open reading frame 74"", ""ubiquitin related modifier 1 homolog (S. cerevisiae)"""	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742		9.37:g.131133623G>A						URM1_ENST00000372853.4_De_novo_Start_InFrame		NM_001135947.2	NP_001129419.1	Q9BTM9	URM1_HUMAN			0	26	+									Translation_Start_Site	SNP	ENST00000372853.4	37		CCDS6900.1																																																																																				0.657	URM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054422.1	NM_030914		5	17	0	0	0	1	0	5	17				
PXK	54899	broad.mit.edu	37	3	58395861	58395861	+	Silent	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:58395861G>A	ENST00000356151.2	+	16	1549	c.1440G>A	c.(1438-1440)gcG>gcA	p.A480A	PXK_ENST00000479241.1_Silent_p.A463A|PXK_ENST00000484288.1_Silent_p.A480A|PXK_ENST00000302779.5_Silent_p.A463A|PXK_ENST00000383715.4_Silent_p.A463A|PXK_ENST00000536660.1_Silent_p.A343A|PXK_ENST00000463280.1_Silent_p.A447A|PXK_ENST00000383716.3_Silent_p.A447A	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGCATTCAGCGAAGTACAGCA	0.433																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1339-1341)gcG>gcA		PX domain containing serine/threonine kinase							88.0	81.0	84.0					3																	58395861		2203	4300	6503	SO:0001819	synonymous_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58395861G>A	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1440G>A	3.37:g.58395861G>A						PXK_ENST00000383716.3_Silent_p.A447A|PXK_ENST00000302779.5_Silent_p.A463A|PXK_ENST00000356151.2_Silent_p.A480A|PXK_ENST00000484288.1_Silent_p.A480A|PXK_ENST00000536660.1_Silent_p.A343A|PXK_ENST00000479241.1_Silent_p.A463A|PXK_ENST00000383715.4_Silent_p.A463A	p.A447A			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	14	1432	+			480			Protein kinase.			Silent	SNP	ENST00000356151.2	37	c.1341G>A	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	7.739	0.700803	0.15172	.	.	ENSG00000168297	ENST00000479134;ENST00000495557	.	.	.	5.9	-4.12	0.03916	.	.	.	.	.	T	0.51024	0.1650	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.51293	-0.8724	4	.	.	.	0.1151	8.2699	0.31838	0.3948:0.2533:0.3519:0.0	.	.	.	.	Q	235;52	.	.	R	+	2	0	PXK	58370901	0.006000	0.16342	0.223000	0.23860	0.945000	0.59286	0.012000	0.13287	-0.435000	0.07264	-0.376000	0.06991	CGA		0.433	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		33	41	0	0	0	1	0	33	41				
GAK	2580	broad.mit.edu	37	4	890299	890299	+	Silent	SNP	T	T	C			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:890299T>C	ENST00000314167.4	-	7	800	c.690A>G	c.(688-690)gaA>gaG	p.E230E	GAK_ENST00000511163.1_Silent_p.E151E	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGTCTATGATTTCTGGTGTTC	0.453																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(688-690)gaA>gaG		cyclin G associated kinase							150.0	129.0	136.0					4																	890299		2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:890299T>C	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.690A>G	4.37:g.890299T>C						GAK_ENST00000511163.1_Silent_p.E151E	p.E230E	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	7	800	-			230			Protein kinase.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.690A>G	CCDS3340.1																																																																																				0.453	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		11	59	0	0	0	1	0	11	59				
ZG16B	124220	broad.mit.edu	37	16	2880459	2880459	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr16:2880459C>T	ENST00000382280.3	+	2	204	c.125C>T	c.(124-126)aCg>aTg	p.T42M	ZG16B_ENST00000572863.1_Missense_Mutation_p.T12M	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	42	Poly-Leu.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTGCTCACGCTTGCCCTC	0.662																																						ENST00000382280.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(124-126)aCg>aTg		zymogen granule protein 16B							20.0	25.0	23.0					16																	2880459		2073	4213	6286	SO:0001583	missense	124220					extracellular region	sugar binding	g.chr16:2880459C>T	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.125C>T	16.37:g.2880459C>T	ENSP00000371715:p.Thr42Met					ZG16B_ENST00000572863.1_Missense_Mutation_p.T12M	p.T42M	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN			2	204	+			42			Poly-Leu.		A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	37	c.125C>T	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	c	14.77	2.634807	0.47049	.	.	ENSG00000162078	ENST00000382280	T	0.35605	1.3	3.11	2.15	0.27550	.	.	.	.	.	T	0.45617	0.1351	L	0.43923	1.385	0.21473	N	0.999671	D	0.89917	1.0	D	0.71870	0.975	T	0.15896	-1.0421	9	0.56958	D	0.05	-25.0543	5.9001	0.18962	0.0:0.856:0.0:0.144	.	42	Q96DA0	ZG16B_HUMAN	M	42	ENSP00000371715:T42M	ENSP00000371715:T42M	T	+	2	0	ZG16B	2820460	0.000000	0.05858	0.781000	0.31783	0.089000	0.18198	0.312000	0.19397	0.880000	0.35969	0.556000	0.70494	ACG		0.662	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		7	5	0	0	0	1	0	7	5				
TRIM47	91107	broad.mit.edu	37	17	73870808	73870808	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:73870808G>A	ENST00000254816.2	-	6	1699	c.1673C>T	c.(1672-1674)gCc>gTc	p.A558V	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.A320V	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	558	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGGCCAAGGCACGGTCAGC	0.667																																						ENST00000254816.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1672-1674)gCc>gTc		tripartite motif containing 47							35.0	42.0	40.0					17																	73870808		2203	4300	6503	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870808G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1673C>T	17.37:g.73870808G>A	ENSP00000254816:p.Ala558Val					TRIM47_ENST00000587339.1_Missense_Mutation_p.A320V	p.A558V	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1699	-			558			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1673C>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647054	0.29246	.	.	ENSG00000132481	ENST00000254816	T	0.68903	-0.36	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000009	T	0.36771	0.0979	N	0.01729	-0.75	0.20873	N	0.999835	B	0.25850	0.136	B	0.27608	0.081	T	0.13791	-1.0496	10	0.02654	T	1	.	14.3104	0.66413	0.0:0.1484:0.8516:0.0	.	558	Q96LD4	TRI47_HUMAN	V	558	ENSP00000254816:A558V	ENSP00000254816:A558V	A	-	2	0	TRIM47	71382403	0.256000	0.24012	0.996000	0.52242	0.092000	0.18411	3.069000	0.50026	2.426000	0.82243	0.561000	0.74099	GCC		0.667	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			33	56	0	0	0	1	0	33	56				
CFTR	1080	broad.mit.edu	37	7	117180367	117180367	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:117180367G>C	ENST00000003084.6	+	8	1215	c.1083G>C	c.(1081-1083)tgG>tgC	p.W361C	CFTR_ENST00000454343.1_Missense_Mutation_p.W361C	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	361	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TACAAACATGGTATGACTCTC	0.388									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CD941633	CFTR	D		c.(1081-1083)tgG>tgC		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						103.0	99.0	100.0					7																	117180367		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117180367G>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1083G>C	7.37:g.117180367G>C	ENSP00000003084:p.Trp361Cys					CFTR_ENST00000454343.1_Missense_Mutation_p.W361C	p.W361C	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		8	1215	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		361			ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1083G>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139916	0.77775	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91686	-2.89;-2.89;-2.89	5.26	5.26	0.73747	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.93969	0.8069	L	0.35414	1.06	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94493	0.7703	10	0.62326	D	0.03	-8.749	19.2222	0.93801	0.0:0.0:1.0:0.0	.	361	P13569	CFTR_HUMAN	C	361;361;331	ENSP00000003084:W361C;ENSP00000403677:W361C;ENSP00000389119:W331C	ENSP00000003084:W361C	W	+	3	0	CFTR	116967603	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.328000	0.96403	2.600000	0.87896	0.563000	0.77884	TGG		0.388	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		6	127	0	0	0	1	0	6	127				
NEK10	152110	broad.mit.edu	37	3	27326389	27326389	+	Missense_Mutation	SNP	G	G	T	rs372441033		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:27326389G>T	ENST00000429845.2	-	22	2215	c.1853C>A	c.(1852-1854)tCt>tAt	p.S618Y	NEK10_ENST00000357467.2_Missense_Mutation_p.S15Y|NEK10_ENST00000341435.5_Missense_Mutation_p.S618Y			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	618	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCCTTCAAAGAACTGAAATG	0.313																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1852-1854)tCt>tAt		NIMA-related kinase 10		G	TYR/SER	1,4401		0,1,2200	77.0	86.0	83.0		1853	5.7	1.0	3		83	0,8594		0,0,4297	no	missense	NEK10	NM_199347.2	144	0,1,6497	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	618/713	27326389	1,12995	2201	4297	6498	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27326389G>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1853C>A	3.37:g.27326389G>T	ENSP00000395849:p.Ser618Tyr					NEK10_ENST00000341435.5_Missense_Mutation_p.S618Y|NEK10_ENST00000357467.2_Missense_Mutation_p.S15Y	p.S618Y			Q6ZWH5	NEK10_HUMAN			22	2215	-			618			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1853C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	28.0|28.0|28.0	4.884356|4.884356|4.884356	0.91814|0.91814|0.91814	2.27E-4|2.27E-4|2.27E-4	0.0|0.0|0.0	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000424275|ENST00000357467;ENST00000341435;ENST00000396636	.|.|T;T	.|.|0.63096	.|.|-0.02;-0.02	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.|0.109014	.|.|0.64402	.|.|D	.|.|0.000005	T|T|T	0.69637|0.69637|0.69637	0.3133|0.3133|0.3133	N|N|N	0.25201|0.25201|0.25201	0.72|0.72|0.72	0.51233|0.51233|0.51233	D|D|D	0.99991|0.99991|0.99991	.|.|D;D	.|.|0.76494	.|.|0.998;0.999	.|.|D;D	.|.|0.71870	.|.|0.954;0.975	T|T|T	0.71652|0.71652|0.71652	-0.4528|-0.4528|-0.4528	5|5|10	.|.|0.54805	.|.|T	.|.|0.06	.|.|.	19.8138|19.8138|19.8138	0.96557|0.96557|0.96557	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|618;15	.|.|Q6ZWH5;Q8N774	.|.|NEK10_HUMAN;.	L|I|Y	74|105|15;618;618	.|.|ENSP00000350059:S15Y;ENSP00000343847:S618Y	.|.|ENSP00000343847:S618Y	F|L|S	-|-|-	3|1|2	2|0|0	NEK10|NEK10|NEK10	27301393|27301393|27301393	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.965000|0.965000|0.965000	0.64279|0.64279|0.64279	7.397000|7.397000|7.397000	0.79903|0.79903|0.79903	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	TTC|CTT|TCT		0.313	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		5	102	1	0	0.014758	1	0.0150081	5	102				
MDFI	4188	broad.mit.edu	37	6	41621214	41621214	+	Silent	SNP	G	G	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr6:41621214G>T	ENST00000373050.4	+	4	646	c.459G>T	c.(457-459)ctG>ctT	p.L153L				Q99750	MDFI_HUMAN	MyoD family inhibitor	214					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTGCGACCTGCCCTGCGACC	0.657																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(457-459)ctG>ctT		MyoD family inhibitor							114.0	100.0	105.0					6																	41621214		2203	4300	6503	SO:0001819	synonymous_variant	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621214G>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.459G>T	6.37:g.41621214G>T							p.L153L			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	646	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		214						Silent	SNP	ENST00000373050.4	37	c.459G>T																																																																																					0.657	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		9	158	1	0	0.335167	1	0.335167	9	158				
MUC16	94025	broad.mit.edu	37	19	9090068	9090068	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:9090068C>G	ENST00000397910.4	-	1	1950	c.1747G>C	c.(1747-1749)Gaa>Caa	p.E583Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	583	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTTTCTTCAAGCCAAATC	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1747-1749)Gaa>Caa		mucin 16, cell surface associated							50.0	50.0	50.0					19																	9090068		2085	4229	6314	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090068C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1747G>C	19.37:g.9090068C>G	ENSP00000381008:p.Glu583Gln						p.E583Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1950	-			583			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1747G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.559	-0.537224	0.04082	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.57	-3.13	0.05266	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44034	-0.9354	8	0.87932	D	0	.	4.5872	0.12287	0.0:0.3364:0.4006:0.263	.	583	B5ME49	.	Q	583	ENSP00000381008:E583Q	ENSP00000381008:E583Q	E	-	1	0	MUC16	8951068	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	-3.367000	0.00495	-2.027000	0.00932	-1.021000	0.02439	GAA		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	58	0	0	0	1	0	4	58				
SRRM1	10250	broad.mit.edu	37	1	24978928	24978928	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr1:24978928C>A	ENST00000323848.9	+	7	1044	c.729C>A	c.(727-729)gaC>gaA	p.D243E	SRRM1_ENST00000537199.1_Missense_Mutation_p.D112E|SRRM1_ENST00000374389.4_Missense_Mutation_p.D243E|SRRM1_ENST00000447431.2_Missense_Mutation_p.D243E|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	243	Arg-rich.|Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCACAGTGACATTCTGAAAG	0.348																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(727-729)gaC>gaA		serine/arginine repetitive matrix 1							24.0	27.0	26.0					1																	24978928		2203	4299	6502	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24978928C>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.729C>A	1.37:g.24978928C>A	ENSP00000326261:p.Asp243Glu					SRRM1_ENST00000447431.2_Missense_Mutation_p.D243E|SRRM1_ENST00000374389.4_Missense_Mutation_p.D243E|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.D112E	p.D243E	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	7	1044	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	243			Arg-rich.|Pro-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.729C>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850047	0.51270	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.47177	0.91;0.93;0.91;0.85	6.05	2.13	0.27403	.	0.000000	0.64402	D	0.000003	T	0.58148	0.2102	L	0.53249	1.67	0.47905	D	0.999545	D;D	0.61697	0.99;0.984	D;D	0.70935	0.971;0.935	T	0.56505	-0.7968	10	0.62326	D	0.03	-2.2877	8.9045	0.35515	0.0:0.5301:0.0:0.4699	.	243;243	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	E	243;243;243;112	ENSP00000326261:D243E;ENSP00000391430:D243E;ENSP00000363510:D243E;ENSP00000441776:D112E	ENSP00000326261:D243E	D	+	3	2	SRRM1	24851515	0.988000	0.35896	1.000000	0.80357	0.985000	0.73830	0.142000	0.16096	0.462000	0.27095	0.650000	0.86243	GAC		0.348	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		4	33	1	0	2.56e-06	1	2.89811e-06	4	33				
F9	2158	broad.mit.edu	37	X	138633271	138633271	+	Missense_Mutation	SNP	C	C	A	rs137852237		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:138633271C>A	ENST00000218099.2	+	6	578	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	F9_ENST00000394090.2_Missense_Mutation_p.R153S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	191		Cleavage; by factor XIa.	R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.). {ECO:0000269|PubMed:2775660}.|R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.). {ECO:0000269|PubMed:6603618, ECO:0000269|PubMed:8076946}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TAAGCTCACCCGTGCTGAGAC	0.358																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940536|CM940537	F9	M	rs137852237	c.(571-573)Cgt>Agt		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						109.0	97.0	101.0					X																	138633271		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138633271C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.571C>A	X.37:g.138633271C>A	ENSP00000218099:p.Arg191Ser					F9_ENST00000394090.2_Missense_Mutation_p.R153S	p.R191S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			6	578	+	Acute lymphoblastic leukemia(192;0.000127)		191		R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.).|R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.).		Cleavage; by factor XIa.	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.571C>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	9.875	1.199980	0.22121	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93426	-3.22;-3.22	4.94	4.04	0.47022	.	0.411574	0.25250	N	0.032021	D	0.93035	0.7783	L	0.39397	1.21	0.36570	D	0.872959	D;P	0.64830	0.994;0.73	P;B	0.62491	0.903;0.107	D	0.91321	0.5082	10	0.22706	T	0.39	.	10.5255	0.44945	0.3505:0.6495:0.0:0.0	.	153;191	Q5FBE1;P00740	.;FA9_HUMAN	S	191;153	ENSP00000218099:R191S;ENSP00000377650:R153S	ENSP00000218099:R191S	R	+	1	0	F9	138460937	0.991000	0.36638	0.198000	0.23420	0.158000	0.22134	2.008000	0.40893	0.823000	0.34589	0.529000	0.55759	CGT		0.358	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			12	126	1	0	0.00010058	1	0.000107764	12	126				
MED12L	116931	broad.mit.edu	37	3	151127118	151127118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:151127118C>T	ENST00000474524.1	+	38	5841	c.5803C>T	c.(5803-5805)Cag>Tag	p.Q1935*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1935	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAAGCACAGGTACCCAC	0.507																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5803-5805)Cag>Tag		mediator complex subunit 12-like							56.0	56.0	56.0					3																	151127118		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151127118C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5803C>T	3.37:g.151127118C>T	ENSP00000417235:p.Gln1935*					MED12L_ENST00000273432.4_Intron	p.Q1935*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		38	5841	+			1935			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.5803C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	46	12.925596	0.99707	.	.	ENSG00000144893	ENST00000474524	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-2.7654	17.4518	0.87594	0.0:1.0:0.0:0.0	.	.	.	.	X	1935	.	ENSP00000417235:Q1935X	Q	+	1	0	MED12L	152609808	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.712000	0.61888	2.713000	0.92767	0.655000	0.94253	CAG		0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	98	0	0	0	1	0	6	98				
MAGEB16	139604	broad.mit.edu	37	X	35820265	35820265	+	5'UTR	SNP	C	C	T	rs5928990	byFrequency	TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:35820265C>T	ENST00000399989.1	+	0	231				MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399992.1_Silent_p.C16C	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16											breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTTCATTGCCTGCCCTCCT	0.522													C|||	1991	0.527417	0.1967	0.3847	3775	,	,		16399	0.5694		0.4185	False		,,,				2504	0.4796					ENST00000399992.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(46-48)tgC>tgT		melanoma antigen family B, 16		C		1096,2550		156,620,164,764,402	29.0	30.0	29.0			-3.3	0.0	X	dbSNP_114	29	3425,3154		665,1161,934,565,863	no	utr-5	MAGEB16	NM_001099921.1		821,1781,1098,1329,1265	TT,TC,T,CC,C		47.9404,30.0603,44.2152			35820265	4521,5704	2106	4188	6294	SO:0001623	5_prime_UTR_variant	139604							g.chrX:35820265C>T		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.-49C>T	X.37:g.35820265C>T						MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399989.1_5'UTR	p.C16C			A2A368	MAGBG_HUMAN			3	147	+			0					A8MU30	Silent	SNP	ENST00000399989.1	37	c.48C>T	CCDS43927.1																																																																																				0.522	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			4	58	0	0	0	1	0	4	58				
HSD17B3	3293	broad.mit.edu	37	9	99017173	99017173	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr9:99017173A>G	ENST00000375263.3	-	3	301	c.254T>C	c.(253-255)cTa>cCa	p.L85P	RNU6-1160P_ENST00000384546.1_RNA|HSD17B3_ENST00000375262.2_Missense_Mutation_p.L85P	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	85					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				AATGGCCTCTAGTTTTTCCAG	0.512																																						ENST00000375263.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(253-255)cTa>cCa		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)						123.0	91.0	102.0					9																	99017173		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99017173A>G		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.254T>C	9.37:g.99017173A>G	ENSP00000364412:p.Leu85Pro					HSD17B3_ENST00000375262.2_Missense_Mutation_p.L85P	p.L85P	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			3	301	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	85					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.254T>C	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065518	0.36470	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.94931	-3.56;-2.38	4.79	4.79	0.61399	NAD(P)-binding domain (1);	0.184069	0.38005	N	0.001842	D	0.98033	0.9352	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.974;0.995	D	0.98463	1.0597	10	0.72032	D	0.01	-17.9462	10.9088	0.47097	1.0:0.0:0.0:0.0	.	85;85	Q5U0Q6;P37058	.;DHB3_HUMAN	P	85	ENSP00000364412:L85P;ENSP00000364411:L85P	ENSP00000364411:L85P	L	-	2	0	HSD17B3	98056994	1.000000	0.71417	0.819000	0.32651	0.085000	0.17905	5.435000	0.66532	2.147000	0.66899	0.533000	0.62120	CTA		0.512	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		16	26	0	0	0	1	0	16	26				
DMXL1	1657	broad.mit.edu	37	5	118506611	118506611	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:118506611G>T	ENST00000311085.8	+	24	6205	c.6125G>T	c.(6124-6126)cGt>cTt	p.R2042L	DMXL1_ENST00000539542.1_Missense_Mutation_p.R2042L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2042										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAGAACTTCGTACTTTATCT	0.358																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6124-6126)cGt>cTt		Dmx-like 1							59.0	62.0	61.0					5																	118506611		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118506611G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6125G>T	5.37:g.118506611G>T	ENSP00000309690:p.Arg2042Leu					DMXL1_ENST00000539542.1_Missense_Mutation_p.R2042L	p.R2042L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	24	6205	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2042						Missense_Mutation	SNP	ENST00000311085.8	37	c.6125G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413557	0.83449	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.78126	-1.15;-1.15	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.967	D	0.89343	0.3655	10	0.66056	D	0.02	-15.5055	19.3932	0.94594	0.0:0.0:1.0:0.0	.	2042;2042	F5H269;Q9Y485	.;DMXL1_HUMAN	L	2042	ENSP00000309690:R2042L;ENSP00000439479:R2042L	ENSP00000309690:R2042L	R	+	2	0	DMXL1	118534510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.577000	0.86979	0.557000	0.71058	CGT		0.358	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		43	46	1	0	1.57019e-19	1	1.84729e-19	43	46				
HSD17B1	3292	broad.mit.edu	37	17	40704977	40704977	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:40704977C>G	ENST00000585807.1	+	1	3746	c.26C>G	c.(25-27)aCc>aGc	p.T9S	RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.T9S	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	9					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GTGCTCATCACCGGCTGTTCC	0.647																																						ENST00000585807.1																			0				NS(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(25-27)aCc>aGc		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						51.0	48.0	49.0					17																	40704977		2203	4300	6503	SO:0001583	missense	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40704977C>G		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.26C>G	17.37:g.40704977C>G	ENSP00000466799:p.Thr9Ser					HSD17B1_ENST00000225929.5_Missense_Mutation_p.T9S|RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA	p.T9S	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	1	3746	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	9					B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.26C>G	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473390	0.63737	.	.	ENSG00000108786	ENST00000225929;ENST00000225928	D	0.97710	-4.5	4.15	4.15	0.48705	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.81942	2.565	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.87578	0.997;0.998;0.983	D	0.98325	1.0530	10	0.44086	T	0.13	.	13.3376	0.60526	0.0:1.0:0.0:0.0	.	9;9;9	B3RFR9;B4DTD0;P14061	.;.;DHB1_HUMAN	S	9	ENSP00000225929:T9S	ENSP00000225928:T9S	T	+	2	0	HSD17B1	37958503	0.998000	0.40836	0.989000	0.46669	0.570000	0.35934	4.241000	0.58707	2.164000	0.68074	0.586000	0.80456	ACC		0.647	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		4	61	0	0	0	1	0	4	61				
GPR124	25960	broad.mit.edu	37	8	37702487	37702487	+	IGR	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr8:37702487G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Missense_Mutation_p.P261S|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAGGACGCCGGGTAGGGCAGG	0.587																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(781-783)Ccg>Tcg		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							33.0	32.0	32.0					8																	37702487		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702487G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702487G>A						BRF2_ENST00000520601.1_3'UTR	p.P261S	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	901	-		Lung NSC(58;0.118)|all_lung(54;0.195)	261					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.781C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704115	0.68615	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	5.64	5.64	0.86602	.	0.110120	0.64402	D	0.000006	T	0.60599	0.2281	M	0.65498	2.005	0.80722	D	1	P	0.46621	0.881	P	0.45138	0.471	T	0.57596	-0.7784	9	0.10636	T	0.68	.	19.3136	0.94202	0.0:0.0:1.0:0.0	.	261	Q9HAW0	BRF2_HUMAN	S	261;238	.	ENSP00000220659:P261S	P	-	1	0	BRF2	37821645	1.000000	0.71417	0.995000	0.50966	0.646000	0.38490	4.854000	0.62918	2.659000	0.90383	0.655000	0.94253	CCG		0.587	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	52	0	0	0	1	0	5	52				
TNFRSF1B	7133	broad.mit.edu	37	1	12251959	12251959	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr1:12251959G>T	ENST00000376259.3	+	4	525	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C	TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.G146C|MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	146					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)	p.G146R(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GTGCCGCCCGGGCTTCGGCGT	0.682																																						ENST00000376259.3																			1	Substitution - Missense(1)	p.G146R(1)	lung(1)	central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(436-438)Ggc>Tgc		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						16.0	19.0	18.0					1																	12251959		2197	4286	6483	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251959G>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.436G>T	1.37:g.12251959G>T	ENSP00000365435:p.Gly146Cys					TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.G146C	p.G146C	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	4	525	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	146					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.436G>T	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635561	0.67130	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.99724	-6.54;-4.69	3.91	3.91	0.45181	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.94964	3.605	0.47659	D	0.999485	D	0.89917	1.0	D	0.97110	1.0	D	0.97262	0.9905	10	0.87932	D	0	-39.3817	11.6276	0.51156	0.0:0.0:1.0:0.0	.	146	P20333	TNR1B_HUMAN	C	146	ENSP00000365435:G146C;ENSP00000440425:G146C	ENSP00000365435:G146C	G	+	1	0	TNFRSF1B	12174546	0.991000	0.36638	0.756000	0.31282	0.095000	0.18619	2.586000	0.46119	2.198000	0.70561	0.555000	0.69702	GGC		0.682	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		3	30	1	0	6.4e-05	1	6.98182e-05	3	30				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	93	0	0	0	1	0	6	93				
PAXBP1	94104	broad.mit.edu	37	21	34123457	34123457	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr21:34123457C>T	ENST00000331923.4	-	9	1769	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H	PAXBP1_ENST00000290178.4_Missense_Mutation_p.R527H	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	527	Necessary and sufficient for interaction with PAX7. {ECO:0000250}.				muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGCAATGCGACGTTTTGCATG	0.463																																						ENST00000331923.4																			0											c.(1579-1581)cGt>cAt		PAX3 and PAX7 binding protein 1							112.0	94.0	100.0					21																	34123457		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34123457C>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1580G>A	21.37:g.34123457C>T	ENSP00000328992:p.Arg527His					PAXBP1_ENST00000290178.4_Missense_Mutation_p.R527H	p.R527H	NM_016631.3	NP_057715.2					9	1769	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1580G>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629884	0.87660	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.37058	1.65;1.22	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72338	0.977;0.948;0.94	T	0.61594	-0.7031	10	0.59425	D	0.04	-11.8073	18.6815	0.91547	0.0:1.0:0.0:0.0	.	527;527;36	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	H	527	ENSP00000328992:R527H;ENSP00000290178:R527H	ENSP00000290178:R527H	R	-	2	0	GCFC1	33045328	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	3.473000	0.53122	2.517000	0.84864	0.557000	0.71058	CGT		0.463	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		19	67	0	0	0	1	0	19	67				
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328|rs561001430|rs72704847|rs527966074|rs200495953	byFrequency	TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000295367.4	+	2	352_375	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)ccaggctacaccaaggtccctgaadel	p.PGYTKVPE104del	SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del|SPRR3_ENST00000331860.3_In_Frame_Del_p.PGYTKVPE104del	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567														567	0.113219	0.1082	0.062	5008	,	,		23905	0.1528		0.1133	False		,,,				2504	0.1155					ENST00000331860.3																			1	Substitution - Missense(1)	p.Y106C(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(310-333)del		small proline-rich protein 3			,	1170,3096		431,308,1394					,	3.4	0.4		dbSNP_130	84	2304,5950		748,808,2571	no	coding,coding	SPRR3	NM_005416.2,NM_001097589.1	,	1179,1116,3965	A1A1,A1R,RR		27.9137,27.4262,27.7476	,	,		3474,9046				SO:0001651	inframe_deletion	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.310_333delCCAGGCTACACCAAGGTCCCTGAA	1.37:g.152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENSP00000295367:p.Pro104_Glu111del					SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del	p.PGYTKVPE104del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	460_483	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		104		Missing.	14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	In_Frame_Del	DEL	ENST00000295367.4	37	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	CCDS1033.1																																																																																				0.567	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		8	87						8	87	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			4	8						4	8	---	---	---	---
TRIM59	286827	broad.mit.edu	37	3	160156367	160156368	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:160156367_160156368insT	ENST00000309784.4	-	3	789_790	c.604_605insA	c.(604-606)agtfs	p.S202fs	RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.S202fs|TRIM59_ENST00000543469.1_Frame_Shift_Ins_p.S202fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	202					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202fs*3(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGTTAGGAAACTTTTTTTTTTC	0.342																																						ENST00000543469.1																			1	Deletion - Frameshift(1)	p.S202fs*3(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(604-606)tttfs		tripartite motif containing 59																																				SO:0001589	frameshift_variant	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156367_160156368insT	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.605dupA	3.37:g.160156377_160156377dupT	ENSP00000311219:p.Ser202fs					TRIM59_ENST00000309784.4_Frame_Shift_Ins_p.F202fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.F202fs	p.F202fs			Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	818_819	-			202					A8K5G9|D3DNL9	Frame_Shift_Ins	INS	ENST00000309784.4	37	c.604_605insA	CCDS3190.1																																																																																				0.342	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		10	154						10	154	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:5401259delG	ENST00000430969.1	-	14	4975	c.4627delC	c.(4627-4629)cgcfs	p.R1543fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.R1543fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCTCTTGCGGGGGGGCGAC	0.692																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4627-4629)gcfs		trinucleotide repeat containing 18				32,3150		10,12,1569						3.9	1.0			15	35,6719		7,21,3349	no	frameshift	TNRC18	NM_001080495.2		17,33,4918	A1A1,A1R,RR		0.5182,1.0057,0.6743				67,9869				SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5401259delG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4627delC	7.37:g.5401259delG	ENSP00000395538:p.Arg1543fs					TNRC18_ENST00000430969.1_Frame_Shift_Del_p.R1543fs	p.R1543fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	14	4975	-		Ovarian(82;0.142)	1543					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.4627delC	CCDS47534.1																																																																																				0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114549976	114549977	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr13:114549976_114549977delCT	ENST00000355761.4	-	1	79_80	c.80_81delAG	c.(79-81)gagfs	p.E27fs	GAS6_ENST00000357389.3_Intron|GAS6_ENST00000476291.1_5'Flank|GAS6_ENST00000327773.6_Intron			Q14393	GAS6_HUMAN	growth arrest-specific 6	0					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCCCTCCATGCTCTCTGGCTGG	0.574																																						ENST00000355761.4																			0				central_nervous_system(4)|ovary(1)	5						c.(79-81)gfs		growth arrest-specific 6																																				SO:0001589	frameshift_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114549976_114549977delCT		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000355761.4:c.80_81delAG	13.37:g.114549980_114549981delCT	ENSP00000348003:p.Glu27fs					GAS6_ENST00000357389.3_Intron|GAS6_ENST00000327773.6_Intron	p.E27fs			Q14393	GAS6_HUMAN			1	79_80	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	0					B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Frame_Shift_Del	DEL	ENST00000355761.4	37	c.80_81delAG																																																																																					0.574	GAS6-201	KNOWN	basic	protein_coding	protein_coding		NM_000820		11	7						11	7	---	---	---	---
