#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CSMD2	114784	broad.mit.edu	37	1	34071024	34071024	+	Silent	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr1:34071024G>A	ENST00000373380.1	-	21	3229	c.3009C>T	c.(3007-3009)ggC>ggT	p.G1003G	CSMD2_ENST00000373388.2_Silent_p.G229G|CSMD2_ENST00000489419.1_5'Flank|CSMD2_ENST00000373377.1_Silent_p.G229G|CSMD2_ENST00000373381.4_Silent_p.G2130G			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2132	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2132G(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTCACAATGCCATTGGCAA	0.517																																							uc001bxn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(6394-6396)GGC>GGT		CUB and Sushi multiple domains 2							94.0	86.0	89.0					1																	34071024		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34071024G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3009C>T	1.37:g.34071024G>A						CSMD2_uc001bxm.1_Silent_p.G2130G|CSMD2_uc001bxo.1_Silent_p.G1003G	p.G2132G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			43	6425	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2132			Sushi 12.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.6396C>T																																																																																					0.517	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		9	82	0	0	0	0.058154	0	9	82				
CD34	947	broad.mit.edu	37	1	208073342	208073342	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr1:208073342C>T	ENST00000310833.7	-	2	407	c.86G>A	c.(85-87)gGg>gAg	p.G29E	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000485761.1_5'Flank|CD34_ENST00000356522.4_Missense_Mutation_p.G29E	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	29					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.G29E(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACTCATGAACCCAGAAGCTAT	0.423																																							uc001hgw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(85-87)GGG>GAG		CD34 antigen isoform a							85.0	84.0	85.0					1																	208073342		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208073342C>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.86G>A	1.37:g.208073342C>T	ENSP00000310036:p.Gly29Glu					CD34_uc001hgx.1_Missense_Mutation_p.G29E|CD34_uc010psj.1_5'UTR	p.G29E	NM_001025109	NP_001020280	P28906	CD34_HUMAN			2	344	-			29					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.86G>A	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818639	0.32145	.	.	ENSG00000174059	ENST00000310833;ENST00000356522	T;T	0.11063	2.81;2.81	4.0	-1.39	0.08997	.	0.904094	0.09272	N	0.825053	T	0.06872	0.0175	L	0.29908	0.895	0.09310	N	0.999993	B;B	0.20550	0.033;0.046	B;B	0.26202	0.067;0.014	T	0.42982	-0.9419	10	0.41790	T	0.15	-0.0371	1.1296	0.01743	0.3092:0.3778:0.1512:0.1618	.	29;29	P28906-2;P28906	.;CD34_HUMAN	E	29	ENSP00000310036:G29E;ENSP00000348916:G29E	ENSP00000310036:G29E	G	-	2	0	CD34	206139965	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	-0.100000	0.10990	-0.242000	0.09667	-0.324000	0.08512	GGG		0.423	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		10	55	0	0	0	0.058154	0	10	55				
RAG1	5896	broad.mit.edu	37	11	36597479	36597479	+	Silent	SNP	C	C	T	rs200264827		TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr11:36597479C>T	ENST00000299440.5	+	2	2737	c.2625C>T	c.(2623-2625)tcC>tcT	p.S875S		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	875					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S875S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TAATTCCTTCCGAGGAGAGGC	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2623-2625)TCC>TCT		recombination activating gene 1							134.0	129.0	131.0					11																	36597479		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597479C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2625C>T	11.37:g.36597479C>T						RAG1_uc001mwt.2_RNA	p.S875S	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2749	+	all_lung(20;0.226)	all_hematologic(20;0.107)	875					E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.2625C>T	CCDS7902.1																																																																																				0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		15	123	0	0	0	0.0333	0	15	123				
OR5D14	219436	broad.mit.edu	37	11	55563607	55563608	+	Missense_Mutation	DNP	TG	TG	AT	rs144571267	byFrequency	TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr11:55563607_55563608TG>AT	ENST00000335605.1	+	1	576_577	c.576_577TG>AT	c.(574-579)tcTGat>tcATat	p.D193Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D193N(1)|p.D193Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTCTGGCTCTGATATACTCAT	0.431																																							uc010rim.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|central_nervous_system(1)	3						c.(574-579)TCTGAT>TCATAT		olfactory receptor, family 5, subfamily D,																																				SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563607_55563608TG>AT	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	Exception_encountered	11.37:g.55563607_55563608delinsAT	ENSP00000334456:p.Asp193Tyr						p.D193Y	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	576_577	+		all_epithelial(135;0.196)	193			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	DNP	ENST00000335605.1	37	c.576_577TG>AT	CCDS31508.1																																																																																				0.431	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		34	372	0	0	0	0.004672	0	34	372				
ALX1	8092	broad.mit.edu	37	12	85677431	85677431	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr12:85677431G>A	ENST00000316824.3	+	2	463	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	103					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R103Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AACAGTCTCCGAATGTCTCCC	0.478																																							uc001tae.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(307-309)CGA>CAA		cartilage paired-class homeoprotein 1							113.0	106.0	108.0					12																	85677431		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677431G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.308G>A	12.37:g.85677431G>A	ENSP00000315417:p.Arg103Gln						p.R103Q	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	312	+			103					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.308G>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730252	0.69074	.	.	ENSG00000180318	ENST00000316824	D	0.92048	-2.96	5.62	5.62	0.85841	.	0.099125	0.64402	D	0.000003	D	0.83161	0.5194	N	0.19112	0.55	0.48185	D	0.999608	P	0.39071	0.658	B	0.28465	0.09	T	0.82563	-0.0395	10	0.21540	T	0.41	.	15.4989	0.75680	0.0:0.1378:0.8622:0.0	.	103	Q15699	ALX1_HUMAN	Q	103	ENSP00000315417:R103Q	ENSP00000315417:R103Q	R	+	2	0	ALX1	84201562	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	5.953000	0.70290	2.801000	0.96364	0.650000	0.86243	CGA		0.478	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		10	84	0	0	0	0.09319	0	10	84				
KLHL1	57626	broad.mit.edu	37	13	70314633	70314633	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr13:70314633G>T	ENST00000377844.4	-	8	2454	c.1695C>A	c.(1693-1695)agC>agA	p.S565R	KLHL1_ENST00000545028.1_Missense_Mutation_p.S372R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	565					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.S565R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TATTCAGATAGCTCCAGCCAT	0.418																																							uc001vip.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1693-1695)AGC>AGA		kelch-like 1 protein							122.0	108.0	112.0					13																	70314633		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314633G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1695C>A	13.37:g.70314633G>T	ENSP00000367075:p.Ser565Arg					KLHL1_uc010thm.1_Missense_Mutation_p.S504R	p.S565R	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2489	-		Breast(118;0.000162)	565			Kelch 3.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1695C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668929	0.67814	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.77620	-1.11;-1.11	4.94	-0.998	0.10212	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.80265	0.4591	L	0.41415	1.275	0.40304	D	0.97864	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.77948	-0.2396	10	0.56958	D	0.05	.	11.6984	0.51556	0.5418:0.0:0.4582:0.0	.	565;565	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	565;372	ENSP00000367075:S565R;ENSP00000439602:S372R	ENSP00000367075:S565R	S	-	3	2	KLHL1	69212634	0.993000	0.37304	0.993000	0.49108	0.998000	0.95712	0.258000	0.18387	-0.229000	0.09854	0.591000	0.81541	AGC		0.418	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		10	116	1	0	3.86212e-05	0.069234	4.70171e-05	10	116				
OR4K17	390436	broad.mit.edu	37	14	20586121	20586121	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr14:20586121C>T	ENST00000315543.4	+	1	556	c.556C>T	c.(556-558)Cac>Tac	p.H186Y		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H186Y(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGGTCTCCTTCACTCAGGGTT	0.453																																							uc001vwo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(556-558)CAC>TAC		olfactory receptor, family 4, subfamily K,							248.0	211.0	224.0					14																	20586121		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586121C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.556C>T	14.37:g.20586121C>T	ENSP00000319197:p.His186Tyr						p.H186Y	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	556	+	all_cancers(95;0.00108)		158			Helical; Name=4; (Potential).		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.556C>T	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	13.18	2.158798	0.38119	.	.	ENSG00000176230	ENST00000315543	T	0.36699	1.24	2.86	0.891	0.19224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35151	U	0.003414	T	0.46092	0.1375	M	0.64260	1.97	0.20074	N	0.999933	D	0.69078	0.997	D	0.66196	0.942	T	0.23440	-1.0188	10	0.87932	D	0	.	3.5572	0.07869	0.2131:0.5565:0.0:0.2305	.	158	Q8NGC6	OR4KH_HUMAN	Y	186	ENSP00000319197:H186Y	ENSP00000319197:H186Y	H	+	1	0	OR4K17	19655961	0.000000	0.05858	0.216000	0.23742	0.895000	0.52256	-0.094000	0.11094	0.482000	0.27582	0.404000	0.27445	CAC		0.453	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			33	285	0	0	0	0.045705	0	33	285				
OR10G3	26533	broad.mit.edu	37	14	22038086	22038086	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr14:22038086C>G	ENST00000303532.1	-	1	789	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E264Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CTGTTGGTTTCAGGCCTCAGG	0.582																																							uc010tmb.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(790-792)GAA>CAA		olfactory receptor, family 10, subfamily G,							77.0	80.0	79.0					14																	22038086		2203	4300	6503	SO:0001583	missense	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038086C>G		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.790G>C	14.37:g.22038086C>G	ENSP00000302437:p.Glu264Gln						p.E264Q	NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	790	-	all_cancers(95;0.000987)		264			Extracellular (Potential).		Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	c.790G>C	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594548	0.28445	.	.	ENSG00000169208	ENST00000303532	T	0.00107	8.72	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.308092	0.22978	N	0.053351	T	0.00073	0.0002	N	0.03967	-0.31	0.24096	N	0.99589	P	0.34699	0.464	B	0.37480	0.251	T	0.37865	-0.9687	10	0.11485	T	0.65	-6.5555	9.7096	0.40236	0.0:0.9034:0.0:0.0966	.	264	Q8NGC4	O10G3_HUMAN	Q	264	ENSP00000302437:E264Q	ENSP00000302437:E264Q	E	-	1	0	OR10G3	21107926	0.000000	0.05858	1.000000	0.80357	0.953000	0.61014	-0.304000	0.08199	2.462000	0.83206	0.484000	0.47621	GAA		0.582	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			4	149	0	0	0	0.009096	0	4	149				
SERPINA6	866	broad.mit.edu	37	14	94780977	94780977	+	Silent	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr14:94780977G>A	ENST00000341584.3	-	2	155	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	3					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)	p.L3L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGTACAGGAGGAGTGGCATTG	0.547																																							uc001ycv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(7-9)CTC>CTT		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						78.0	82.0	81.0					14																	94780977		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780977G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.9C>T	14.37:g.94780977G>A						SERPINA6_uc010auv.2_RNA	p.L3L	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	113	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	3					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.9C>T	CCDS9924.1																																																																																				0.547	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		12	143	0	0	0	0.09319	0	12	143				
MKL2	57496	broad.mit.edu	37	16	14340356	14340356	+	Silent	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr16:14340356G>A	ENST00000341243.5	+	10	1206	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	MKL2_ENST00000318282.5_Silent_p.K413K|MKL2_ENST00000571589.1_Silent_p.K413K|MKL2_ENST00000574045.1_Silent_p.K413K			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	402	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.K413K(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGAACTGAAGTTAAGGGGTC	0.498																																							uc010uza.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1237-1239)AAG>AAA		megakaryoblastic leukemia 2 protein							52.0	48.0	49.0					16																	14340356		2197	4300	6497	SO:0001819	synonymous_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340356G>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1206G>A	16.37:g.14340356G>A						MKL2_uc002dcg.2_Silent_p.K413K|MKL2_uc002dcj.2_5'Flank	p.K413K	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			12	1394	+			402			SAP.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37	c.1239G>A																																																																																					0.498	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		3	75	0	0	0	0.004672	0	3	75				
CHD9	80205	broad.mit.edu	37	16	53326814	53326814	+	Missense_Mutation	SNP	G	G	A	rs376635463		TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr16:53326814G>A	ENST00000398510.3	+	28	5447	c.5360G>A	c.(5359-5361)cGt>cAt	p.R1787H	CHD9_ENST00000564845.1_Missense_Mutation_p.R1787H|CHD9_ENST00000447540.1_Missense_Mutation_p.R1787H|CHD9_ENST00000566029.1_Missense_Mutation_p.R1787H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1787					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1787H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CGTTTGAGGCGTCTCATCACT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		18201	0.0		0.0	False		,,,				2504	0.001						uc002ehb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(5359-5361)CGT>CAT		chromodomain helicase DNA binding protein 9		G	HIS/ARG	5,3827		1,3,1912	120.0	116.0	117.0		5360	5.3	1.0	16		117	2,8262		0,2,4130	no	missense	CHD9	NM_025134.4	29	1,5,6042	AA,AG,GG		0.0242,0.1305,0.0579	probably-damaging	1787/2882	53326814	7,12089	1916	4132	6048	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53326814G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5360G>A	16.37:g.53326814G>A	ENSP00000381522:p.Arg1787His					CHD9_uc002egy.2_Missense_Mutation_p.R1787H|CHD9_uc002ehc.2_Missense_Mutation_p.R1787H|CHD9_uc002ehf.2_Missense_Mutation_p.R901H|CHD9_uc010cbw.2_Missense_Mutation_p.R155H	p.R1787H	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			28	5524	+		all_cancers(37;0.0212)	1787					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5360G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.340537	0.95783	0.001305	2.42E-4	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.91740	-2.9;-2.9	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000023	D	0.96694	0.8921	M	0.87971	2.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	0.994;1.0;0.987;0.994	D	0.97217	0.9875	10	0.87932	D	0	-11.1255	19.0531	0.93053	0.0:0.0:1.0:0.0	.	155;1787;1787;1787	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	H	1787;1787;155	ENSP00000396345:R1787H;ENSP00000381522:R1787H	ENSP00000381522:R1787H	R	+	2	0	CHD9	51884315	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.322000	0.96357	2.500000	0.84329	0.591000	0.81541	CGT		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		26	140	0	0	0	0.0918	0	26	140				
ITGAE	3682	broad.mit.edu	37	17	3638115	3638115	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:3638115T>A	ENST00000263087.4	-	21	2749	c.2651A>T	c.(2650-2652)cAa>cTa	p.Q884L	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	884					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.Q884L(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGTCACCTTTTGCATCCTCTT	0.557																																					NSCLC(182;635 2928 8995 38788)	NSCLC(182;635 2928 8995 38788)	uc002fwo.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|breast(1)|pancreas(1)	4						c.(2650-2652)CAA>CTA		integrin, alpha E precursor							251.0	231.0	238.0					17																	3638115		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3638115T>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2651A>T	17.37:g.3638115T>A	ENSP00000263087:p.Gln884Leu						p.Q884L	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	21	2750	-			884			Extracellular (Potential).		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2651A>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105205	0.56291	.	.	ENSG00000083457	ENST00000263087	T	0.41400	1.0	5.05	5.05	0.67936	Integrin alpha-2 (1);	.	.	.	.	T	0.47857	0.1468	M	0.67953	2.075	0.37349	D	0.910707	P	0.43231	0.801	P	0.46419	0.516	T	0.55774	-0.8088	9	0.40728	T	0.16	.	11.5232	0.50565	0.0:0.0:0.0:1.0	.	884	P38570	ITAE_HUMAN	L	884	ENSP00000263087:Q884L	ENSP00000263087:Q884L	Q	-	2	0	ITGAE	3584864	0.999000	0.42202	1.000000	0.80357	0.453000	0.32348	1.629000	0.37071	2.045000	0.60652	0.491000	0.48974	CAA		0.557	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		27	243	0	0	0	0.108266	0	27	243				
POLR2A	5430	broad.mit.edu	37	17	7416688	7416688	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:7416688C>T	ENST00000322644.6	+	29	5504	c.5105C>T	c.(5104-5106)aCa>aTa	p.T1702I		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1702	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.T1702I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				tactcaccgacatctcccagc	0.587																																							uc002ghf.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(5104-5106)ACA>ATA		DNA-directed RNA polymerase II A							382.0	318.0	339.0					17																	7416688		2202	4296	6498	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7416688C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5105C>T	17.37:g.7416688C>T	ENSP00000314949:p.Thr1702Ile						p.T1702I	NM_000937	NP_000928	P24928	RPB1_HUMAN			29	5339	+		Prostate(122;0.173)	1702			16.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5105C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980526	0.34942	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.73363	-0.74	3.4	3.4	0.38934	.	0.325754	0.12477	U	0.465478	D	0.86041	0.5838	M	0.89904	3.07	0.80722	D	1	P	0.48407	0.91	P	0.56648	0.803	D	0.86515	0.1812	10	0.44086	T	0.13	-9.5874	14.1359	0.65287	0.0:1.0:0.0:0.0	.	1702	P24928	RPB1_HUMAN	I	1658;601;1702	ENSP00000314949:T1702I	ENSP00000314949:T1702I	T	+	2	0	SLC35G6	7357412	0.991000	0.36638	0.789000	0.31954	0.411000	0.31082	5.131000	0.64751	1.904000	0.55121	0.456000	0.33151	ACA		0.587	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		5	19	0	0	0	0.014758	0	5	19				
SEPT4	5414	broad.mit.edu	37	17	56606477	56606477	+	Splice_Site	SNP	C	C	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:56606477C>A	ENST00000317268.3	-	1	235	c.59G>T	c.(58-60)gGg>gTg	p.G20V	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_5'Flank|SEPT4_ENST00000412945.3_Intron|SEPT4_ENST00000580809.1_Intron|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000457347.2_Intron|SEPT4_ENST00000580844.1_Splice_Site_p.G20V|SEPT4_ENST00000583114.1_5'Flank|SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000579371.1_Splice_Site_p.G20V|SEPT4_ENST00000580791.1_5'Flank|SEPT4_ENST00000426861.1_Intron	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	20					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.G20V(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACCTTACCCCAGCTTCAGT	0.552																																							uc002iwm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GGG>GTG		septin 4 isoform 1							202.0	153.0	169.0					17																	56606477		2203	4300	6503	SO:0001630	splice_region_variant	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56606477C>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.60+1G>T	17.37:g.56606477C>A						SEPT4_uc002iwk.1_5'Flank|SEPT4_uc010wnw.1_5'Flank|SEPT4_uc002iwl.1_5'Flank|SEPT4_uc002iwn.1_Missense_Mutation_p.G20V|SEPT4_uc002iwo.1_Intron|SEPT4_uc002iwp.1_Intron|SEPT4_uc010wnx.1_Intron|SEPT4_uc010wny.1_Intron|SEPT4_uc010dcy.1_Intron	p.G20V	NM_004574	NP_004565	O43236	SEPT4_HUMAN			1	187	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		20					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.59G>T	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609164	0.28623	.	.	ENSG00000108387	ENST00000317268	T	0.55234	0.53	4.7	3.65	0.41850	.	3.072470	0.00763	N	0.001141	T	0.37892	0.1020	N	0.14661	0.345	0.80722	D	1	B	0.34103	0.437	B	0.29862	0.108	T	0.36065	-0.9763	10	0.30854	T	0.27	.	9.5888	0.39532	0.2087:0.7913:0.0:0.0	.	20	O43236	SEPT4_HUMAN	V	20	ENSP00000321674:G20V	ENSP00000321674:G20V	G	-	2	0	SEPT4	53961476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.121000	0.31283	2.613000	0.88420	0.561000	0.74099	GGG		0.552	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	Missense_Mutation	5	83	1	0	0.00116845	0.021553	0.00139219	5	83				
BCAS3	54828	broad.mit.edu	37	17	59024579	59024579	+	Splice_Site	SNP	G	G	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:59024579G>T	ENST00000390652.5	+	14	1118		c.e14-1		BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000589222.1_Splice_Site	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.?(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTGTCTTCCAGGAATGCTTCT	0.353																																							uc002iyv.3		NA																	1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.e14-1		breast carcinoma amplified sequence 3 isoform 1							175.0	157.0	162.0					17																	59024579		1860	4105	5965	SO:0001630	splice_region_variant	54828					nucleus		g.chr17:59024579G>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1088-1G>T	17.37:g.59024579G>T						BCAS3_uc010wow.1_Splice_Site_p.G150_splice|BCAS3_uc002iyu.3_Splice_Site_p.G363_splice|BCAS3_uc002iyw.3_Splice_Site_p.G359_splice|BCAS3_uc002iyx.1_Splice_Site_p.G178_splice|BCAS3_uc002iyy.3_Splice_Site_p.G134_splice	p.G363_splice	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		14	1197	+									Splice_Site	SNP	ENST00000390652.5	37	c.1088_splice	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713930	0.89112	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9542	0.97213	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCAS3	56379361	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.412000	0.97347	2.788000	0.95919	0.585000	0.79938	.		0.353	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	Intron	24	250	1	0	1.77063e-15	0.108266	2.25353e-15	24	250				
MC5R	4161	broad.mit.edu	37	18	13826014	13826014	+	Silent	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr18:13826014C>T	ENST00000324750.3	+	1	472	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	84					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.L84L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GGCGGACATGCTGGTGAGCAT	0.522																																							uc010xaf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(1)	6						c.(250-252)CTG>TTG		melanocortin 5 receptor							123.0	110.0	114.0					18																	13826014		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826014C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.250C>T	18.37:g.13826014C>T							p.L84L	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	250	+			84			Helical; Name=2; (Potential).		B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.250C>T	CCDS11868.1																																																																																				0.522	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		3	53	0	0	0	0.004672	0	3	53				
U2AF2	11338	broad.mit.edu	37	19	56173908	56173908	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr19:56173908G>A	ENST00000308924.4	+	6	567	c.527G>A	c.(526-528)gGg>gAg	p.G176E	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.G176E|U2AF2_ENST00000590551.1_Missense_Mutation_p.G12E|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	176	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G176E(1)|p.G176V(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATGCGCCTGGGGGGGCTGACC	0.607																																							uc002qlu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(526-528)GGG>GAG		U2 (RNU2) small nuclear RNA auxiliary factor 2							40.0	48.0	45.0					19																	56173908		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56173908G>A	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.527G>A	19.37:g.56173908G>A	ENSP00000307863:p.Gly176Glu					U2AF2_uc002qlt.2_Missense_Mutation_p.G176E	p.G176E	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	6	1582	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	176			RRM 1.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.527G>A	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	3.906	-0.021121	0.07634	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.11604	2.76;2.77	4.13	3.06	0.35304	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.05960	0.0155	N	0.17082	0.46	0.53688	D	0.999977	B;B	0.22414	0.069;0.049	B;B	0.26310	0.068;0.041	T	0.15037	-1.0451	10	0.05620	T	0.96	-22.3889	11.8012	0.52128	0.0965:0.0:0.9035:0.0	.	176;176	P26368;P26368-2	U2AF2_HUMAN;.	E	176	ENSP00000307863:G176E;ENSP00000388475:G176E	ENSP00000307863:G176E	G	+	2	0	U2AF2	60865720	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	7.171000	0.77595	2.023000	0.59567	0.585000	0.79938	GGG		0.607	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		4	81	0	0	0	0.014758	0	4	81				
TTN	7273	broad.mit.edu	37	2	179440815	179440815	+	Silent	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr2:179440815G>A	ENST00000591111.1	-	276	65345	c.65121C>T	c.(65119-65121)gcC>gcT	p.A21707A	TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Silent_p.A23348A|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Silent_p.A20780A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.A14283A|TTN_ENST00000359218.5_Silent_p.A14408A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.A14475A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21707	Ig-like 114.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A14475A(1)|p.A14408A(1)|p.A20778A(1)|p.A20780A(1)|p.A14283A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGAAGCTCGGCATCTAGTT	0.468																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(62338-62340)GCC>GCT		titin isoform N2-A							104.0	102.0	103.0					2																	179440815		1909	4118	6027	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440815G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65121C>T	2.37:g.179440815G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A14475A|TTN_uc010zfi.1_Silent_p.A14408A|TTN_uc010zfj.1_Silent_p.A14283A|uc002umv.1_5'Flank	p.A20780A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	62564	-			21707					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.62340C>T																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	156	0	0	0	0.024245	0	15	156				
PMS1	5378	broad.mit.edu	37	2	190742066	190742066	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr2:190742066C>G	ENST00000441310.2	+	13	2936	c.2703C>G	c.(2701-2703)atC>atG	p.I901M	PMS1_ENST00000447232.2_Missense_Mutation_p.I739M|PMS1_ENST00000409823.3_Missense_Mutation_p.I862M|PMS1_ENST00000418224.3_Missense_Mutation_p.I725M|PMS1_ENST00000432292.3_Missense_Mutation_p.I725M	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	901					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.I901M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AAGACATTATCTACAGAATGA	0.378			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																															uc002urh.3		NA	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(2701-2703)ATC>ATG	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							127.0	120.0	122.0					2																	190742066		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190742066C>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2703C>G	2.37:g.190742066C>G	ENSP00000406490:p.Ile901Met					PMS1_uc002urk.3_Missense_Mutation_p.I862M|PMS1_uc002uri.3_Missense_Mutation_p.I739M|PMS1_uc010zgc.1_Missense_Mutation_p.I725M|PMS1_uc010zgd.1_Missense_Mutation_p.I725M|PMS1_uc002urj.2_RNA|PMS1_uc010frz.2_Missense_Mutation_p.I217M|PMS1_uc002url.2_Missense_Mutation_p.I524M|PMS1_uc002urm.2_RNA	p.I901M	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		13	3232	+			901					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2703C>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316285	0.23908	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593	D;D;D;D;D;D	0.97279	-2.6;-2.34;-2.77;-3.12;-2.34;-4.32	5.76	0.514	0.17007	.	0.253669	0.46442	N	0.000291	D	0.91389	0.7283	N	0.25380	0.74	0.23325	N	0.997901	B;P;B;B;B	0.36753	0.009;0.568;0.201;0.077;0.058	B;B;B;B;B	0.38378	0.003;0.272;0.051;0.034;0.035	D	0.85375	0.1116	10	0.48119	T	0.1	-2.2883	2.6424	0.04975	0.2102:0.3483:0.3021:0.1394	.	217;524;862;739;901	Q5FBZ4;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;PMS1_HUMAN	M	901;725;862;739;725;524	ENSP00000406490:I901M;ENSP00000404492:I725M;ENSP00000387125:I862M;ENSP00000401064:I739M;ENSP00000398378:I725M;ENSP00000387169:I524M	ENSP00000387169:I524M	I	+	3	3	PMS1	190450311	0.071000	0.21146	0.902000	0.35471	0.989000	0.77384	0.092000	0.15066	0.424000	0.26061	-0.150000	0.13652	ATC		0.378	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			12	116	0	0	0	0.080935	0	12	116				
HIRA	7290	broad.mit.edu	37	22	19398295	19398295	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr22:19398295G>A	ENST00000263208.5	-	2	300	c.44C>T	c.(43-45)cCg>cTg	p.P15L	HIRA_ENST00000541063.1_5'UTR|HIRA_ENST00000546308.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.P15L|HIRA_ENST00000464189.1_5'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	15					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P15L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGAAAAAATCGGCTTGCCTGG	0.378																																							uc002zpf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(43-45)CCG>CTG		HIR histone cell cycle regulation defective							173.0	181.0	179.0					22																	19398295		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19398295G>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.44C>T	22.37:g.19398295G>A	ENSP00000263208:p.Pro15Leu					HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.P15L|HIRA_uc010gro.1_5'UTR|HIRA_uc010grp.2_RNA	p.P15L	NM_003325	NP_003316	P54198	HIRA_HUMAN			2	264	-	Colorectal(54;0.0993)		15			WD 1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.44C>T	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902279	0.92035	.	.	ENSG00000100084	ENST00000340170;ENST00000263208	D;T	0.81659	-1.52;-0.26	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90830	0.7120	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.99	D	0.92499	0.6007	10	0.72032	D	0.01	-10.3749	17.7299	0.88374	0.0:0.0:1.0:0.0	.	15;15	P54198-2;P54198	.;HIRA_HUMAN	L	15	ENSP00000345350:P15L;ENSP00000263208:P15L	ENSP00000263208:P15L	P	-	2	0	HIRA	17778295	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.793000	0.91862	2.485000	0.83878	0.655000	0.94253	CCG		0.378	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		34	293	0	0	0	0.074837	0	34	293				
BPIFC	254240	broad.mit.edu	37	22	32833811	32833811	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr22:32833811A>T	ENST00000397452.1	-	8	793	c.683T>A	c.(682-684)cTg>cAg	p.L228Q	BPIFC_ENST00000432451.2_Missense_Mutation_p.L42Q|BPIFC_ENST00000300399.3_Missense_Mutation_p.L228Q|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	228						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.L228Q(1)									GTAATCCAGCAGAGTGTAGTT	0.343																																							uc003amn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(682-684)CTG>CAG		bactericidal/permeability-increasing							92.0	85.0	87.0					22																	32833811		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833811A>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.683T>A	22.37:g.32833811A>T	ENSP00000380594:p.Leu228Gln					BPIL2_uc010gwo.2_Missense_Mutation_p.L42Q|BPIL2_uc011amb.1_5'UTR	p.L228Q	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			7	683	-			228					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.683T>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676330	0.47886	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	T;T;T	0.04551	3.6;3.6;3.6	5.68	5.68	0.88126	.	0.630111	0.16166	N	0.226515	T	0.06645	0.0170	L	0.55481	1.735	0.80722	D	1	B;B	0.20780	0.025;0.048	B;B	0.20767	0.031;0.015	T	0.29458	-1.0011	10	0.13853	T	0.58	-0.537	12.5975	0.56478	1.0:0.0:0.0:0.0	.	42;228	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	Q	228;228;42	ENSP00000380594:L228Q;ENSP00000300399:L228Q;ENSP00000408920:L42Q	ENSP00000300399:L228Q	L	-	2	0	BPIFC	31163811	0.650000	0.27331	0.925000	0.36789	0.866000	0.49608	3.160000	0.50739	2.289000	0.77006	0.533000	0.62120	CTG		0.343	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		8	79	0	0	0	0.047766	0	8	79				
RASA2	5922	broad.mit.edu	37	3	141295935	141295935	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr3:141295935G>A	ENST00000452898.1	+	15	1612	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	RASA2_ENST00000286364.3_Missense_Mutation_p.R526Q	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	526	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.R526Q(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTTCATTTGCGACCTCATCAT	0.343																																							uc003etz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(1576-1578)CGA>CAA		RAS p21 protein activator 2							242.0	221.0	228.0					3																	141295935		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141295935G>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1577G>A	3.37:g.141295935G>A	ENSP00000391677:p.Arg526Gln					RASA2_uc010huq.1_Missense_Mutation_p.R526Q|RASA2_uc003eua.1_Missense_Mutation_p.R526Q|RASA2_uc011bnc.1_Missense_Mutation_p.R118Q	p.R526Q	NM_006506	NP_006497	Q15283	RASA2_HUMAN			15	1577	+			526			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.1577G>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.996569	0.93167	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.79454	-1.27;-1.27	6.03	5.16	0.70880	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.85809	0.5783	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.997	D;D;D;D	0.69142	0.957;0.962;0.935;0.962	D	0.86632	0.1886	10	0.54805	T	0.06	.	17.4213	0.87516	0.0:0.1245:0.8755:0.0	.	118;526;526;526	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	Q	526;526;118	ENSP00000286364:R526Q;ENSP00000391677:R526Q	ENSP00000286364:R526Q	R	+	2	0	RASA2	142778625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.320000	0.96346	1.549000	0.49425	0.557000	0.71058	CGA		0.343	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		21	204	0	0	0	0.099896	0	21	204				
SLC9A9	285195	broad.mit.edu	37	3	143550932	143550932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr3:143550932C>A	ENST00000316549.6	-	2	515	c.307G>T	c.(307-309)Gaa>Taa	p.E103*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	103					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.E103*(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TATTTATATTCATAAACTTGG	0.338																																							uc003evn.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(307-309)GAA>TAA		solute carrier family 9 (sodium/hydrogen							144.0	139.0	140.0					3																	143550932		2203	4300	6503	SO:0001587	stop_gained	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143550932C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.307G>T	3.37:g.143550932C>A	ENSP00000320246:p.Glu103*					SLC9A9_uc011bnk.1_Intron	p.E103*	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			2	489	-			103					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Nonsense_Mutation	SNP	ENST00000316549.6	37	c.307G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	38	7.152833	0.98099	.	.	ENSG00000181804	ENST00000316549;ENST00000474151	.	.	.	5.14	5.14	0.70334	.	0.080819	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.1568	0.93514	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000320246:E103X	E	-	1	0	SLC9A9	145033622	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.996000	0.63914	2.832000	0.97577	0.655000	0.94253	GAA		0.338	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		17	144	1	0	3.45872e-05	0.028581	4.30418e-05	17	144				
CDC23	8697	broad.mit.edu	37	5	137527959	137527959	+	Splice_Site	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr5:137527959G>A	ENST00000394886.2	-	11	1315	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	429					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.R423*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGGCTTACCGAAGCTGGTGG	0.438																																							uc003lcl.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1285-1287)CGA>TGA		cell division cycle protein 23							67.0	68.0	68.0					5																	137527959		2203	4300	6503	SO:0001630	splice_region_variant	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137527959G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1286+1C>T	5.37:g.137527959G>A							p.R429*	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		11	1316	-			429			TPR 7.		A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Nonsense_Mutation	SNP	ENST00000394886.2	37	c.1285C>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	36	5.612001	0.96637	.	.	ENSG00000094880	ENST00000394886	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6595	13.2807	0.60212	0.0:0.0:0.7398:0.2602	.	.	.	.	X	429	.	ENSP00000378350:R429X	R	-	1	2	CDC23	137555858	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.890000	0.56220	2.820000	0.97059	0.650000	0.86243	CGA		0.438	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		Nonsense_Mutation	18	97	0	0	0	0.0333	0	18	97				
PCDH1	5097	broad.mit.edu	37	5	141233671	141233671	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr5:141233671G>A	ENST00000287008.3	-	5	3797	c.3650C>T	c.(3649-3651)tCg>tTg	p.S1217L	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1217L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGGAAGTCCGAGGTCTGGGT	0.677																																					Ovarian(132;1609 1739 4190 14731 45037)	Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3649-3651)TCG>TTG		protocadherin 1 isoform 2 precursor							31.0	37.0	35.0					5																	141233671		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141233671G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3650C>T	5.37:g.141233671G>A	ENSP00000287008:p.Ser1217Leu						p.S1217L	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	5	3767	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3650C>T	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636878	0.47049	.	.	ENSG00000156453	ENST00000287008	T	0.55760	0.5	4.97	4.97	0.65823	.	0.000000	0.31721	U	0.007165	T	0.45418	0.1341	L	0.51422	1.61	0.80722	D	1	B	0.34372	0.451	B	0.24269	0.052	T	0.48547	-0.9026	10	0.45353	T	0.12	.	16.0896	0.81084	0.0:0.0:1.0:0.0	.	1217	Q08174-2	.	L	1217	ENSP00000287008:S1217L	ENSP00000287008:S1217L	S	-	2	0	PCDH1	141213855	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.851000	0.62896	2.457000	0.83068	0.462000	0.41574	TCG		0.677	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		4	14	0	0	0	0.014758	0	4	14				
CDKAL1	54901	broad.mit.edu	37	6	20758841	20758841	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr6:20758841C>T	ENST00000378610.1	+	5	494	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CDKAL1_ENST00000274695.4_Missense_Mutation_p.R162C|CDKAL1_ENST00000378624.4_Missense_Mutation_p.R92C|RP3-348I23.2_ENST00000421167.1_RNA			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	162	MTTase N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00780}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.R162C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GCAGATAGATCGTGTGGTAGA	0.328																																							uc003ndc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(484-486)CGT>TGT		CDK5 regulatory subunit associated protein							114.0	122.0	119.0					6																	20758841		2203	4299	6502	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20758841C>T	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.484C>T	6.37:g.20758841C>T	ENSP00000367873:p.Arg162Cys					CDKAL1_uc003ndd.1_Missense_Mutation_p.R162C|CDKAL1_uc003nde.1_Missense_Mutation_p.R92C	p.R162C	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		7	658	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		162			MTTase N-terminal.		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.484C>T	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742088	0.69418	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.51574	0.7;0.73;0.7	5.62	5.62	0.85841	Methylthiotransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.89904	3.07	0.80722	D	1	D;P	0.56035	0.974;0.937	P;P	0.55112	0.769;0.534	T	0.71520	-0.4568	10	0.72032	D	0.01	-12.6183	15.1474	0.72667	0.0:1.0:0.0:0.0	.	92;162	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	C	162;92;162	ENSP00000274695:R162C;ENSP00000367889:R92C;ENSP00000367873:R162C	ENSP00000274695:R162C	R	+	1	0	CDKAL1	20866820	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.196000	0.58407	2.650000	0.89964	0.591000	0.81541	CGT		0.328	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		7	66	0	0	0	0.047766	0	7	66				
SLC17A1	6568	broad.mit.edu	37	6	25813423	25813423	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr6:25813423A>G	ENST00000244527.4	-	7	750	c.635T>C	c.(634-636)gTa>gCa	p.V212A	SLC17A1_ENST00000476801.1_Missense_Mutation_p.V212A|SLC17A1_ENST00000468082.1_Missense_Mutation_p.V212A|SLC17A1_ENST00000427328.1_Missense_Mutation_p.V212A	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	212					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.V212A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GAGAAGACATACGGCACAGCC	0.438																																							uc003nfh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(634-636)GTA>GCA		solute carrier family 17 (sodium phosphate),							107.0	102.0	103.0					6																	25813423		2203	4300	6503	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25813423A>G		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.635T>C	6.37:g.25813423A>G	ENSP00000244527:p.Val212Ala					SLC17A1_uc011djy.1_Intron|SLC17A1_uc010jqb.1_Missense_Mutation_p.V210A|SLC17A1_uc010jqc.1_Missense_Mutation_p.V210A	p.V212A	NM_005074	NP_005065	Q14916	NPT1_HUMAN			7	751	-			212			Helical; (Potential).		A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.635T>C	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	A	8.943	0.966194	0.18659	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	3.83	3.83	0.44106	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.047000	0.03063	N	0.156113	T	0.24236	0.0587	N	0.22421	0.69	0.09310	N	1	B;B	0.16802	0.016;0.019	B;B	0.16722	0.009;0.016	T	0.23190	-1.0195	10	0.87932	D	0	.	9.2422	0.37504	1.0:0.0:0.0:0.0	.	212;212	Q14916-2;Q14916	.;NPT1_HUMAN	A	212	ENSP00000244527:V212A;ENSP00000410549:V212A;ENSP00000420614:V212A;ENSP00000420546:V212A	ENSP00000244527:V212A	V	-	2	0	SLC17A1	25921402	0.000000	0.05858	0.002000	0.10522	0.556000	0.35491	-0.198000	0.09505	1.755000	0.51935	0.456000	0.33151	GTA		0.438	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			5	40	0	0	0	0.02938	0	5	40				
PHF1	5252	broad.mit.edu	37	6	33380553	33380553	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr6:33380553G>A	ENST00000374516.3	+	4	591	c.320G>A	c.(319-321)tGt>tAt	p.C107Y	PHF1_ENST00000374512.3_Missense_Mutation_p.C107Y|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	107					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C107Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGGTCAGCTGTGAGAAGTGT	0.577																																							uc003oeh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(319-321)TGT>TAT		PHD finger protein 1 isoform b							140.0	126.0	131.0					6																	33380553		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33380553G>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.320G>A	6.37:g.33380553G>A	ENSP00000363640:p.Cys107Tyr					PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.C107Y|PHF1_uc010jux.2_Intron	p.C107Y	NM_024165	NP_077084	O43189	PHF1_HUMAN			4	556	+		Ovarian(999;0.0443)	107			PHD-type 1.		B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.320G>A	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060604	0.76074	.	.	ENSG00000112511	ENST00000427004;ENST00000428274;ENST00000374512;ENST00000374516	D;D;D;D	0.99947	-8.64;-8.64;-8.64;-8.64	5.03	5.03	0.67393	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99953	0.9980	M	0.89840	3.065	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.995	D	0.95462	0.8544	10	0.87932	D	0	-38.3669	15.8843	0.79232	0.0:0.0:1.0:0.0	.	107;107	O43189-2;O43189	.;PHF1_HUMAN	Y	107	ENSP00000410494:C107Y;ENSP00000392697:C107Y;ENSP00000363636:C107Y;ENSP00000363640:C107Y	ENSP00000363636:C107Y	C	+	2	0	PHF1	33488531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.495000	0.81514	2.614000	0.88457	0.655000	0.94253	TGT		0.577	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			7	103	0	0	0	0.038147	0	7	103				
TMEM106B	54664	broad.mit.edu	37	7	12270022	12270022	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:12270022A>G	ENST00000396667.3	+	7	912	c.590A>G	c.(589-591)tAc>tGc	p.Y197C	TMEM106B_ENST00000396668.3_Missense_Mutation_p.Y197C	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	197				Y -> N (in Ref. 2; BAD96983). {ECO:0000305}.	cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.Y197C(1)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		CAGATTGATTACACAGTACCT	0.264																																							uc011jxk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(589-591)TAC>TGC		transmembrane protein 106B							123.0	129.0	127.0					7																	12270022		2202	4298	6500	SO:0001583	missense	54664					integral to membrane		g.chr7:12270022A>G	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.590A>G	7.37:g.12270022A>G	ENSP00000379901:p.Tyr197Cys					TMEM106B_uc003ssh.2_Missense_Mutation_p.Y197C	p.Y197C	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	7	990	+			197	Y -> N (in Ref. 2; BAD96983).				A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	c.590A>G	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192688	0.78902	.	.	ENSG00000106460	ENST00000396668;ENST00000396667	T;T	0.33654	1.4;1.4	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.66893	-0.5808	10	0.72032	D	0.01	.	15.9373	0.79720	1.0:0.0:0.0:0.0	.	197	Q9NUM4	T106B_HUMAN	C	197	ENSP00000379902:Y197C;ENSP00000379901:Y197C	ENSP00000379901:Y197C	Y	+	2	0	TMEM106B	12236547	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	8.491000	0.90468	2.230000	0.72887	0.533000	0.62120	TAC		0.264	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		8	114	0	0	0	0.038147	0	8	114				
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		3	Substitution - Missense(3)	p.V30_R297>G(5)|p.L62R(1)	lung(2)|central_nervous_system(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(184-186)CTT>CGT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175.0	167.0	170.0					7																	55210075		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210075T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.L62R|EGFR_uc003tqi.2_Missense_Mutation_p.L62R|EGFR_uc003tqj.2_Missense_Mutation_p.L62R|EGFR_uc010kzg.1_Missense_Mutation_p.L62R|EGFR_uc011kco.1_Missense_Mutation_p.L9R	p.L62R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	431	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		62			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		35	194	0	0	0	0.059317	0	35	194				
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> M (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity; more sensitive to gefitinib than wild-type; dbSNP:rs121434568). {ECO:0000269|PubMed:15118125, ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATTTTGGGCTGGCCAAACTG	0.537	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	L858R(NCIH1975_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1491	Substitution - Missense(1491)	p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1)	lung(1475)|upper_aerodigestive_tract(5)|thyroid(4)|large_intestine(2)|peritoneum(1)|stomach(1)|thymus(1)|breast(1)|ovary(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2572-2574)CTG>CGG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						105.0	98.0	101.0					7																	55259515		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259515T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2573T>G	7.37:g.55259515T>G	ENSP00000275493:p.Leu858Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank	p.L858R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2819	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		858		L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2573T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601026	0.87055	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.91351	-2.83;-2.83;-2.83	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.137592	0.50627	D	0.000117	D	0.96340	0.8806	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.956;0.999	D	0.97213	0.9872	10	0.87932	D	0	.	14.8112	0.69996	0.0:0.0:0.0:1.0	.	813;858	Q504U8;P00533	.;EGFR_HUMAN	R	813;728;858;805	ENSP00000415559:L813R;ENSP00000275493:L858R;ENSP00000395243:L805R	ENSP00000275493:L858R	L	+	2	0	EGFR	55227009	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.890000	0.87313	2.176000	0.68965	0.528000	0.53228	CTG		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		14	101	0	0	0	0.0333	0	14	101				
MUC3A	4584	broad.mit.edu	37	7	100608884	100608884	+	Missense_Mutation	SNP	G	G	A	rs73163797		TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:100608884G>A	ENST00000319509.7	+	7	2263	c.2263G>A	c.(2263-2265)Gcg>Acg	p.A755T	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2420	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.A755T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAGCGGTCCCGCGTGTCGGTA	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		12027	0.001		0.0	False		,,,				2504	0.0						uc003uxl.1		NA																	1	Substitution - Missense(1)	p.A755T(1)	ovary(1)		NA						c.(1963-1965)GCG>ACG		SubName: Full=Intestinal mucin; Flags: Fragment;																																				SO:0001583	missense	0							g.chr7:100608884G>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2263G>A	7.37:g.100608884G>A	ENSP00000324834:p.Ala755Thr					uc003uxm.1_RNA|uc003uxn.1_Intron|uc010lhn.1_RNA	p.A655T							7	2763	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.1963G>A		.	.	.	.	.	.	.	.	.	.	G	0.530	-0.858257	0.02610	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.41758	0.99;0.99	2.4	-4.34	0.03666	Epidermal growth factor-like (1);	.	.	.	.	T	0.12561	0.0305	N	0.04880	-0.145	0.19300	N	0.999975	B	0.30439	0.279	B	0.16289	0.015	T	0.25222	-1.0138	8	0.08599	T	0.76	.	3.2845	0.06927	0.4519:0.0:0.3661:0.182	.	2420	Q02505	MUC3A_HUMAN	T	755;245	ENSP00000324834:A755T;ENSP00000406404:A245T	ENSP00000324834:A755T	A	+	1	0	MUC3A	100395604	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.604000	0.00890	-1.380000	0.02115	-0.680000	0.03767	GCG		0.667	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		3	9	0	0	0	0.014758	0	3	9				
ZNF425	155054	broad.mit.edu	37	7	148800831	148800831	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:148800831G>A	ENST00000378061.2	-	4	2264	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	711					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A711V(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCACAGATGGGCCTTCAGGCT	0.557																																							uc003wfj.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(2131-2133)GCC>GTC		zinc finger protein 425							79.0	74.0	76.0					7																	148800831		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148800831G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2132C>T	7.37:g.148800831G>A	ENSP00000367300:p.Ala711Val						p.A711V	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2205	-	Melanoma(164;0.15)		711			C2H2-type 18.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.2132C>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	G	2.271	-0.366943	0.05069	.	.	ENSG00000204947	ENST00000378061	T	0.07800	3.16	2.88	-0.495	0.12030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	B	0.28552	0.215	B	0.23150	0.044	T	0.44544	-0.9321	9	0.21540	T	0.41	.	2.3627	0.04311	0.1235:0.3946:0.3176:0.1643	.	711	Q6IV72	ZN425_HUMAN	V	711	ENSP00000367300:A711V	ENSP00000367300:A711V	A	-	2	0	ZNF425	148431764	0.000000	0.05858	0.007000	0.13788	0.990000	0.78478	-3.423000	0.00476	-0.121000	0.11787	0.655000	0.94253	GCC		0.557	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		23	94	0	0	0	0.083992	0	23	94				
DCAF4L2	138009	broad.mit.edu	37	8	88885731	88885731	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr8:88885731C>T	ENST00000319675.3	-	1	565	c.469G>A	c.(469-471)Gtg>Atg	p.V157M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	157								p.V157M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGAGCAGCACGGCACAGCTT	0.552																																							uc003ydz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)GTG>ATG		WD repeat domain 21C							99.0	92.0	94.0					8																	88885731		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885731C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.469G>A	8.37:g.88885731C>T	ENSP00000316496:p.Val157Met						p.V157M	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	566	-			157						Missense_Mutation	SNP	ENST00000319675.3	37	c.469G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733880	0.30684	.	.	ENSG00000176566	ENST00000319675	T	0.71222	-0.55	1.39	-0.0308	0.13912	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.119123	0.85682	D	0.000000	T	0.62478	0.2431	L	0.36672	1.1	0.09310	N	0.999991	D	0.61080	0.989	P	0.53006	0.715	T	0.56300	-0.8002	10	0.62326	D	0.03	.	3.2853	0.06930	0.0:0.3119:0.0:0.6881	.	157	Q8NA75	DC4L2_HUMAN	M	157	ENSP00000316496:V157M	ENSP00000316496:V157M	V	-	1	0	DCAF4L2	88954847	1.000000	0.71417	0.003000	0.11579	0.002000	0.02628	1.772000	0.38552	-0.232000	0.09811	-0.373000	0.07131	GTG		0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		7	109	0	0	0	0.038147	0	7	109				
MXRA5	25878	broad.mit.edu	37	X	3235707	3235707	+	Silent	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chrX:3235707G>A	ENST00000217939.6	-	6	6169	c.6015C>T	c.(6013-6015)caC>caT	p.H2005H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2005	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)		p.H2005H(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCGGTTTTCGTGCAGGGTGA	0.622																																							uc004crg.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6013-6015)CAC>CAT		adlican precursor							42.0	38.0	40.0					X																	3235707		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3235707G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6015C>T	X.37:g.3235707G>A							p.H2005H	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6172	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2005			Ig-like C2-type 4.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6015C>T	CCDS14124.1																																																																																				0.622	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	43	0	0	0	0.02938	0	6	43				
DMD	1756	broad.mit.edu	37	X	31496381	31496381	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chrX:31496381T>A	ENST00000357033.4	-	59	8985	c.8779A>T	c.(8779-8781)Aga>Tga	p.R2927*	DMD_ENST00000378677.2_Nonsense_Mutation_p.R2923*|DMD_ENST00000343523.2_Nonsense_Mutation_p.R467*|DMD_ENST00000359836.1_Nonsense_Mutation_p.R467*|DMD_ENST00000378707.3_Nonsense_Mutation_p.R467*|DMD_ENST00000474231.1_Nonsense_Mutation_p.R467*|DMD_ENST00000541735.1_Nonsense_Mutation_p.R467*|DMD_ENST00000445312.1_5'Flank	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2927					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R2923*(1)|p.R1586*(1)|p.R2927*(1)|p.R467*(1)|p.R2922*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTATTTTTCTCTGCCAGTCA	0.527																																							uc004dda.1		NA																	5	Substitution - Nonsense(5)		lung(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8779-8781)AGA>TGA		dystrophin Dp427m isoform							67.0	59.0	62.0					X																	31496381		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31496381T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8779A>T	X.37:g.31496381T>A	ENSP00000354923:p.Arg2927*					DMD_uc004dcq.1_Nonsense_Mutation_p.R198*|DMD_uc004dcr.1_Nonsense_Mutation_p.R467*|DMD_uc004dcs.1_Nonsense_Mutation_p.R467*|DMD_uc004dct.1_Nonsense_Mutation_p.R467*|DMD_uc004dcu.1_Nonsense_Mutation_p.R467*|DMD_uc004dcv.1_Nonsense_Mutation_p.R467*|DMD_uc004dcw.2_Nonsense_Mutation_p.R1583*|DMD_uc004dcx.2_Nonsense_Mutation_p.R1586*|DMD_uc004dcz.2_Nonsense_Mutation_p.R2804*|DMD_uc004dcy.1_Nonsense_Mutation_p.R2923*|DMD_uc004ddb.1_Nonsense_Mutation_p.R2919*	p.R2927*	NM_004006	NP_003997	P11532	DMD_HUMAN			59	9023	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2927			Spectrin 21.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.8779A>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	50|50	16.954656|16.954656	0.99876|0.99876	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|.	.|.	.|.	5.4|5.4	2.77|2.77	0.32553|0.32553	.|.	.|0.178753	.|0.25467	.|U	.|0.030471	T|.	0.25494|.	0.0620|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32322|.	-0.9911|.	3|.	.|0.02654	.|T	.|1	.|.	11.4401|11.4401	0.50092|0.50092	0.0:0.0:0.2799:0.7201|0.0:0.0:0.2799:0.7201	.|.	.|.	.|.	.|.	V|X	655|2919;1586;1583;623;2923;2927;467;467;2927;2804;467;467;467	.|.	.|ENSP00000340057:R467X	E|R	-|-	2|1	0|2	DMD|DMD	31406302|31406302	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	1.952000|1.952000	0.40343|0.40343	0.759000|0.759000	0.33084|0.33084	0.430000|0.430000	0.28490|0.28490	GAG|AGA		0.527	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		10	125	0	0	0	0.058154	0	10	125				
G6PD	2539	broad.mit.edu	37	X	153764207	153764207	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chrX:153764207G>A	ENST00000393564.2	-	4	324	c.212C>T	c.(211-213)gCc>gTc	p.A71V	G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Missense_Mutation_p.A71V|G6PD_ENST00000393562.2_Missense_Mutation_p.A101V	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	71					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.A71V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGGGAACGGGCATAGCCCAC	0.627																																							uc004fly.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(211-213)GCC>GTC		glucose-6-phosphate dehydrogenase isoform b							75.0	52.0	60.0					X																	153764207		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153764207G>A	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.212C>T	X.37:g.153764207G>A	ENSP00000377194:p.Ala71Val					G6PD_uc004flx.1_Missense_Mutation_p.A101V	p.A71V	NM_001042351	NP_001035810	P11413	G6PD_HUMAN			4	325	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		71					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.212C>T	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875417	0.72180	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.99671	-6.35;-6.35;-6.35;-6.35;-6.35;-6.35	5.25	5.25	0.73442	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68621	0.959;0.929	D	0.97108	0.9802	10	0.87932	D	0	.	15.2054	0.73175	0.0:0.0:1.0:0.0	.	71;101	P11413;P11413-3	G6PD_HUMAN;.	V	101;71;71;71;71;71;71	ENSP00000377192:A101V;ENSP00000377194:A71V;ENSP00000358633:A71V;ENSP00000395599:A71V;ENSP00000400648:A71V;ENSP00000394690:A71V	ENSP00000291567:A71V	A	-	2	0	G6PD	153417401	1.000000	0.71417	0.970000	0.41538	0.029000	0.11900	9.165000	0.94761	2.179000	0.69175	0.422000	0.28245	GCC		0.627	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		4	56	0	0	0	0.009096	0	4	56				
MYH3	4621	broad.mit.edu	37	17	10542739	10542739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:10542739delA	ENST00000583535.1	-	24	3065	c.2978delT	c.(2977-2979)ttafs	p.L993fs	MYH3_ENST00000226209.7_Frame_Shift_Del_p.L993fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	993					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCTCTGGTTAACTTTGCAAT	0.413																																							uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2977-2979)TTAfs		myosin, heavy chain 3, skeletal muscle,							60.0	57.0	58.0					17																	10542739		2203	4300	6503	SO:0001589	frameshift_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10542739delA		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2978delT	17.37:g.10542739delA	ENSP00000464317:p.Leu993fs						p.L993fs	NM_002470	NP_002461	P11055	MYH3_HUMAN			23	3055	-			993			Potential.		Q15492	Frame_Shift_Del	DEL	ENST00000583535.1	37	c.2978delT	CCDS11157.1																																																																																				0.413	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		11	90	NA	NA	NA	NA	NA	11	90	---	---	---	---
RUNDC1	146923	broad.mit.edu	37	17	41132982	41132982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:41132982delC	ENST00000361677.1	+	1	401	c.389delC	c.(388-390)gccfs	p.A130fs	PTGES3L-AARSD1_ENST00000409103.1_5'Flank|PTGES3L_ENST00000453594.1_5'Flank|PTGES3L-AARSD1_ENST00000409399.1_5'Flank|PTGES3L-AARSD1_ENST00000360221.4_5'Flank|PTGES3L_ENST00000409446.3_5'Flank|PTGES3L-AARSD1_ENST00000421990.2_5'Flank	NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	130										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAGACTTCGCCTTCCGCGGC	0.726																																							uc002ici.1		NA																	0					0						c.(388-390)GCCfs		RUN domain containing 1							3.0	3.0	3.0					17																	41132982		1905	3776	5681	SO:0001589	frameshift_variant	146923							g.chr17:41132982delC	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.389delC	17.37:g.41132982delC	ENSP00000354622:p.Ala130fs					AARSD1_uc002icd.2_5'Flank|AARSD1_uc002ice.2_5'Flank|AARSD1_uc002icf.2_5'Flank|AARSD1_uc010whg.1_5'Flank|AARSD1_uc002icg.2_5'Flank|AARSD1_uc002ich.2_5'Flank|AARSD1_uc010whh.1_5'Flank|RUNDC1_uc010whi.1_5'UTR	p.A130fs	NM_173079	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	1	401	+		Breast(137;0.00499)	130					Q6Y2K8|Q8IXT9|Q8N3W1	Frame_Shift_Del	DEL	ENST00000361677.1	37	c.389delC	CCDS11448.1																																																																																				0.726	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86129664	86129664	+	IGR	DEL	T	T	-			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr8:86129664delT	ENST00000416274.2	+	0	1728				C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000417663.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCTTAAAGTTTTTTTGGCT	0.343																																							uc010mac.1		NA																	0					0						c.(64-66)AACfs		hypothetical protein LOC401466							196.0	178.0	184.0					8																	86129664		1818	4077	5895	SO:0001628	intergenic_variant	401466							g.chr8:86129664delT	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86129664delT						C8orf59_uc003ydd.2_Frame_Shift_Del_p.N22fs|C8orf59_uc010mad.1_Frame_Shift_Del_p.N22fs|C8orf59_uc003yde.2_Frame_Shift_Del_p.N22fs|C8orf59_uc011lfu.1_RNA	p.N22fs	NM_001099670	NP_001093140	Q8N0T1	CH059_HUMAN			3	305	-			22					E9PBN9|Q16601|Q92756	Frame_Shift_Del	DEL	ENST00000416274.2	37	c.65delA	CCDS47885.1																																																																																				0.343	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		8	261	NA	NA	NA	NA	NA	8	261	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133855032	133855032	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr8:133855032delT	ENST00000395386.2	+	19	2959	c.2660delT	c.(2659-2661)gttfs	p.V887fs	PHF20L1_ENST00000395390.2_Frame_Shift_Del_p.V862fs|PHF20L1_ENST00000220847.7_Frame_Shift_Del_p.V274fs|AF230666.2_ENST00000608375.1_RNA|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	887							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATGATGATGTTAGTAGTTTG	0.383																																							uc003ytt.2		NA																	0				ovary(2)	2						c.(2659-2661)GTTfs		PHD finger protein 20-like 1 isoform 1							107.0	101.0	103.0					8																	133855032		1861	4120	5981	SO:0001589	frameshift_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133855032delT	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2660delT	8.37:g.133855032delT	ENSP00000378784:p.Val887fs					PHF20L1_uc011lja.1_Frame_Shift_Del_p.V861fs	p.V887fs	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		19	2985	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		887					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Del	DEL	ENST00000395386.2	37	c.2660delT	CCDS6367.2																																																																																				0.383	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		18	208	NA	NA	NA	NA	NA	18	208	---	---	---	---
