#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SEMA7A	8482	broad.mit.edu	37	15	74710610	74710610	+	Splice_Site	SNP	C	C	A			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr15:74710610C>A	ENST00000261918.4	-	3	919	c.371G>T	c.(370-372)cGg>cTg	p.R124L	SEMA7A_ENST00000543145.2_Intron|SEMA7A_ENST00000542748.1_5'UTR	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	124	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCCACTCACCCGCTTATCCAG	0.582																																						uc002axv.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.e3+1		Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.							61.0	55.0	57.0					15																	74710610		2197	4296	6493	SO:0001630	splice_region_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74710610C>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.372+1G>T	15.37:g.74710610C>A						SEMA7A_uc010ulk.2_Splice_Site|SEMA7A_uc010ull.2_Intron	p.R124_splice	NM_003612	NP_001139502	O75326	SEM7A_HUMAN			3	412	-			124			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Splice_Site	SNP	ENST00000261918.4	37	c.372_splice	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204332	0.22205	.	.	ENSG00000138623	ENST00000261918	T	0.10763	2.84	4.42	-6.84	0.01687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.534590	0.03591	N	0.231788	T	0.04182	0.0116	N	0.03268	-0.37	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24548	-1.0157	10	0.39692	T	0.17	-5.9723	5.6204	0.17453	0.2363:0.1976:0.0:0.5661	.	124	O75326	SEM7A_HUMAN	L	124	ENSP00000261918:R124L	ENSP00000261918:R124L	R	-	2	0	SEMA7A	72497663	0.000000	0.05858	0.546000	0.28166	0.799000	0.45148	-2.119000	0.01324	-1.230000	0.02561	-0.150000	0.13652	CGG		0.582	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	Missense_Mutation	3	46	0	0	0	1	0	3	46				
RAPGEF1	2889	broad.mit.edu	37	9	134455701	134455701	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr9:134455701T>C	ENST00000372189.3	-	23	3155	c.3032A>G	c.(3031-3033)aAg>aGg	p.K1011R	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.K1028R|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.K1029R	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1011	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGCCACCGCTTGGAGAAGTT	0.637																																						uc022bos.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(3085-3087)aAg>aGg		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.							75.0	82.0	80.0					9																	134455701		2122	4232	6354	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity	g.chr9:134455701T>C	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.3032A>G	9.37:g.134455701T>C	ENSP00000361263:p.Lys1011Arg					RAPGEF1_uc022bot.1_Missense_Mutation_p.K1011R	p.K1029R	NM_198679	NP_941372	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	22	3245	-		Myeloproliferative disorder(178;0.204)	1011			Ras-GEF.		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.3086A>G	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654743	0.67472	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.61274	0.12;0.12;0.12	4.65	4.65	0.58169	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	M	0.91920	3.255	0.58432	D	0.999999	D;P	0.52996	0.957;0.811	P;B	0.52646	0.705;0.331	T	0.81380	-0.0959	10	0.87932	D	0	.	13.2356	0.59967	0.0:0.0:0.0:1.0	.	1011;1029	Q13905;Q13905-3	RPGF1_HUMAN;.	R	1011;1028;957;1011;1029;991;989;1028	ENSP00000361269:K1028R;ENSP00000361263:K1011R;ENSP00000361264:K1029R	ENSP00000266110:K1011R	K	-	2	0	RAPGEF1	133445522	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.584000	0.82572	1.721000	0.51461	0.459000	0.35465	AAG		0.637	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		7	25	0	0	0	1	0	7	25				
MUC21	394263	broad.mit.edu	37	6	30954379	30954379	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:30954379A>T	ENST00000376296.3	+	2	668	c.427A>T	c.(427-429)Acc>Tcc	p.T143S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	143	28 X 15 AA approximate tandem repeats.|Ser-rich.			T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGCACAACCTCCAGTGG	0.617																																						uc003nsh.2																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(427-429)Acc>Tcc		Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.							156.0	147.0	150.0					6																	30954379		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954379A>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.427A>T	6.37:g.30954379A>T	ENSP00000365473:p.Thr143Ser					MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.T127S	p.T143S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			1	678	+			143	T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321).		28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.427A>T	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	a	7.777	0.708617	0.15239	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.03330	3.97	3.52	-6.09	0.02145	.	.	.	.	.	T	0.00695	0.0023	L	0.29908	0.895	0.09310	N	1	B	0.27932	0.194	B	0.29785	0.107	T	0.47898	-0.9081	8	.	.	.	0.0862	2.0111	0.03488	0.3233:0.1595:0.383:0.1342	.	143	Q5SSG8	MUC21_HUMAN	S	143	ENSP00000365473:T143S	.	T	+	1	0	MUC21	31062358	0.026000	0.19158	0.000000	0.03702	0.000000	0.00434	0.077000	0.14738	-1.041000	0.03266	-4.622000	0.00004	ACC		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		11	251	0	0	0	1	0	11	251				
KIAA0754	643314	broad.mit.edu	37	1	39877399	39877399	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr1:39877399A>T	ENST00000530275.1	+	1	1249	c.1054A>T	c.(1054-1056)Aat>Tat	p.N352Y	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	352										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGCTACAGAATCAAATCTC	0.423																																						uc009vvt.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1462-1464)Aat>Tat		Homo sapiens KIAA0754 (KIAA0754), mRNA.							76.0	73.0	74.0					1																	39877399		1858	4099	5957	SO:0001583	missense	643314							g.chr1:39877399A>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1054A>T	1.37:g.39877399A>T	ENSP00000431179:p.Asn352Tyr					MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	p.N488Y	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		0	2224	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	352					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.1462A>T		.	.	.	.	.	.	.	.	.	.	A	11.70	1.716721	0.30413	.	.	ENSG00000255103	ENST00000530275	D	0.85702	-2.02	5.14	4.01	0.46588	.	.	.	.	.	T	0.82217	0.4989	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	P	0.54100	0.742	T	0.72343	-0.4322	9	0.87932	D	0	.	8.854	0.35217	0.7926:0.0:0.2074:0.0	.	352	O94854	K0754_HUMAN	Y	352	ENSP00000431179:N352Y	ENSP00000431179:N352Y	N	+	1	0	RP4-562N20.1	39649986	0.985000	0.35326	0.721000	0.30653	0.297000	0.27493	2.449000	0.44935	0.810000	0.34279	-0.256000	0.11100	AAT		0.423	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		23	69	0	0	0	1	0	23	69				
DRP2	1821	broad.mit.edu	37	X	100486665	100486665	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chrX:100486665C>A	ENST00000395209.3	+	3	556	c.29C>A	c.(28-30)cCt>cAt	p.P10H	DRP2_ENST00000402866.1_Missense_Mutation_p.P10H|DRP2_ENST00000538510.1_Missense_Mutation_p.P10H|DRP2_ENST00000541709.1_Intron	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	10					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGGGATGCCCTTACACCCTC	0.537																																						uc004egz.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(28-30)cCt>cAt		Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.							195.0	157.0	170.0					X																	100486665		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100486665C>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.29C>A	X.37:g.100486665C>A	ENSP00000378635:p.Pro10His					DRP2_uc011mrh.1_Intron	p.P10H	NM_001939	NP_001164655	Q13474	DRP2_HUMAN			2	398	+			10					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.29C>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	c	16.65	3.182063	0.57800	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.08458	3.09;3.09;3.09	5.82	5.82	0.92795	.	0.227356	0.31415	N	0.007696	T	0.12689	0.0308	L	0.51422	1.61	0.80722	D	1	P	0.47350	0.894	B	0.43916	0.436	T	0.00438	-1.1739	10	0.87932	D	0	-3.1234	14.4284	0.67233	0.0:0.9256:0.0:0.0744	.	10	Q13474	DRP2_HUMAN	H	10	ENSP00000385038:P10H;ENSP00000378635:P10H;ENSP00000441051:P10H	ENSP00000362007:P10H	P	+	2	0	DRP2	100373321	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.538000	0.53597	2.457000	0.83068	0.597000	0.82753	CCT		0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		4	181	0	0	0	1	0	4	181				
PPP1R15A	23645	broad.mit.edu	37	19	49377662	49377662	+	Missense_Mutation	SNP	A	A	G	rs142855954		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:49377662A>G	ENST00000200453.5	+	2	1441	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	391	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCCTGGGTCTATCAGCCAGGA	0.527																																						uc002pky.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1171-1173)tAt>tGt		Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.		A	CYS/TYR	0,4406		0,0,2203	113.0	112.0	112.0		1172	-0.0	0.1	19	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	no	missense	PPP1R15A	NM_014330.3	194	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	probably-damaging	391/675	49377662	2,13004	2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377662A>G	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1172A>G	19.37:g.49377662A>G	ENSP00000200453:p.Tyr391Cys						p.Y391C	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	1	1441	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	391			4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1172A>G	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.524878	0.27299	0.0	2.33E-4	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.14022	2.54	4.91	-0.0188	0.13962	.	0.554222	0.15322	N	0.268477	T	0.22589	0.0545	L	0.61036	1.89	0.09310	N	0.999994	D	0.76494	0.999	D	0.63488	0.915	T	0.12967	-1.0527	10	0.66056	D	0.02	-0.6858	1.0618	0.01602	0.4201:0.166:0.0925:0.3213	.	391	O75807	PR15A_HUMAN	C	391;231;349	ENSP00000200453:Y391C	ENSP00000200453:Y391C	Y	+	2	0	PPP1R15A	54069474	0.000000	0.05858	0.127000	0.21898	0.053000	0.15095	-0.314000	0.08092	0.006000	0.14734	-0.309000	0.09137	TAT		0.527	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		4	159	0	0	0	1	0	4	159				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	14	0	0	0	1	0	13	14				
MBTPS1	8720	broad.mit.edu	37	16	84089661	84089661	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr16:84089661G>T	ENST00000343411.3	-	22	3406	c.2911C>A	c.(2911-2913)Caa>Aaa	p.Q971K		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	971					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCCTCACTTGAGGGCGATTC	0.493																																						uc002fhi.3																			0		p.Q971H(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2911-2913)Caa>Aaa		Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.							111.0	102.0	105.0					16																	84089661		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84089661G>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2911C>A	16.37:g.84089661G>T	ENSP00000344223:p.Gln971Lys					MBTPS1_uc002fhh.3_Missense_Mutation_p.Q475K	p.Q971K	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			21	3413	-			971					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.2911C>A	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904583	0.72868	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.28895	1.59	5.65	5.65	0.86999	.	0.192635	0.47093	D	0.000257	T	0.43433	0.1247	L	0.36672	1.1	0.80722	D	1	P	0.40332	0.713	P	0.54815	0.761	T	0.03576	-1.1023	10	0.25106	T	0.35	-13.9444	19.7405	0.96228	0.0:0.0:1.0:0.0	.	971	Q14703	MBTP1_HUMAN	K	971;416	ENSP00000344223:Q971K	ENSP00000344223:Q971K	Q	-	1	0	MBTPS1	82647162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.705000	0.98719	2.655000	0.90218	0.655000	0.94253	CAA		0.493	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		25	67	0	0	0	1	0	25	67				
OR5M3	219482	broad.mit.edu	37	11	56237294	56237294	+	Missense_Mutation	SNP	C	C	T	rs144814707	byFrequency	TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr11:56237294C>T	ENST00000312240.2	-	1	720	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTCTGCTGAGCGCATTCGCAG	0.418													t|||	12	0.00239617	0.0	0.0	5008	,	,		21294	0.0109		0.0	False		,,,				2504	0.001					uc010rjk.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(679-681)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.		T	HIS/ARG	2,4400	819.3+/-416.3	0,2,2199	60.0	58.0	59.0		680	-9.0	0.0	11	dbSNP_134	59	0,8584		0,0,4292	no	missense	OR5M3	NM_001004742.2	29	0,2,6491	TT,TC,CC		0.0,0.0454,0.0154	benign	227/308	56237294	2,12984	2201	4292	6493	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237294C>T	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.680G>A	11.37:g.56237294C>T	ENSP00000312208:p.Arg227His					OR8U8_uc001nit.2_Intron	p.R227H	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			0	721	-	Esophageal squamous(21;0.00448)		227					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.680G>A	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	0.607	-0.826494	0.02734	4.54E-4	0.0	ENSG00000174937	ENST00000312240	T	0.39229	1.09	5.08	-9.04	0.00734	GPCR, rhodopsin-like superfamily (1);	0.719989	0.11980	N	0.510873	T	0.22936	0.0554	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.28299	-1.0048	10	0.13108	T	0.6	0.0056	14.5022	0.67729	0.0:0.3844:0.0:0.6156	.	227	Q8NGP4	OR5M3_HUMAN	H	227	ENSP00000312208:R227H	ENSP00000312208:R227H	R	-	2	0	OR5M3	55993870	0.000000	0.05858	0.002000	0.10522	0.121000	0.20230	-6.039000	0.00084	-2.044000	0.00911	-1.040000	0.02373	CGC		0.418	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		11	13	0	0	0	1	0	11	13				
DTNBP1	84062	broad.mit.edu	37	6	15615571	15615571	+	Missense_Mutation	SNP	A	A	G	rs149346386		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:15615571A>G	ENST00000344537.5	-	6	587	c.415T>C	c.(415-417)Tgt>Cgt	p.C139R	DTNBP1_ENST00000338950.5_Missense_Mutation_p.C139R|DTNBP1_ENST00000355917.3_Missense_Mutation_p.C139R	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	139					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CACTGCCCACATAAGTCTTCC	0.383									Hermansky-Pudlak syndrome																													uc003nbm.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14						c.(415-417)Tgt>Cgt		Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.		A	ARG/CYS,ARG/CYS	3,4403	6.2+/-15.9	0,3,2200	142.0	137.0	138.0		415,415	5.5	1.0	6	dbSNP_134	138	0,8600		0,0,4300	no	missense,missense	DTNBP1	NM_032122.4,NM_183040.2	180,180	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	probably-damaging,probably-damaging	139/352,139/304	15615571	3,13003	2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15615571A>G	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.415T>C	6.37:g.15615571A>G	ENSP00000341680:p.Cys139Arg					DTNBP1_uc003nbl.3_Missense_Mutation_p.C58R|DTNBP1_uc010jph.3_Missense_Mutation_p.C126R|DTNBP1_uc003nbp.3_Missense_Mutation_p.C139R	p.C139R	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		5	604	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	139					A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.415T>C	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789153	0.70337	6.81E-4	0.0	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.34667	1.35;1.35;1.39	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000007	T	0.52141	0.1716	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.76575	0.979;0.988;0.977	T	0.58864	-0.7561	10	0.72032	D	0.01	-15.6348	14.5774	0.68258	1.0:0.0:0.0:0.0	.	139;139;139	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	R	139;139;58;104;139;139	ENSP00000341680:C139R;ENSP00000348183:C139R;ENSP00000344718:C139R	ENSP00000344718:C139R	C	-	1	0	DTNBP1	15723550	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	6.457000	0.73505	2.089000	0.63090	0.533000	0.62120	TGT		0.383	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		4	91	0	0	0	1	0	4	91				
RYR1	6261	broad.mit.edu	37	19	38934209	38934209	+	Silent	SNP	C	C	T	rs139629035		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:38934209C>T	ENST00000359596.3	+	4	282	c.282C>T	c.(280-282)ggC>ggT	p.G94G	RYR1_ENST00000355481.4_Silent_p.G94G|RYR1_ENST00000360985.3_Silent_p.G94G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	94					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CATCCCAGGGCGGGGGACACA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18288	0.0		0.001	False		,,,				2504	0.0					uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(280-282)ggC>ggT		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)	C	,	0,4406		0,0,2203	47.0	45.0	46.0		282,282	-5.6	0.9	19	dbSNP_134	46	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	94/5039,94/5034	38934209	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38934209C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.282C>T	19.37:g.38934209C>T						RYR1_uc002oiu.3_Silent_p.G94G	p.G94G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	412	+	all_cancers(60;7.91e-06)		94					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.282C>T	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			16	27	0	0	0	1	0	16	27				
TRRAP	8295	broad.mit.edu	37	7	98501102	98501102	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr7:98501102T>C	ENST00000359863.4	+	12	1207	c.998T>C	c.(997-999)aTt>aCt	p.I333T	TRRAP_ENST00000446306.3_Missense_Mutation_p.I333T|TRRAP_ENST00000355540.3_Missense_Mutation_p.I333T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	333					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCTTCTGATTGCTGCCAAA	0.488																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(997-999)aTt>aCt		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							200.0	173.0	182.0					7																	98501102		2203	4300	6503	SO:0001583	missense	8295				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98501102T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.998T>C	7.37:g.98501102T>C	ENSP00000352925:p.Ile333Thr					TRRAP_uc011kis.2_Missense_Mutation_p.I333T|TRRAP_uc003upr.3_Missense_Mutation_p.I25T	p.I333T	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		11	1207	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		333					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.998T>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801318	0.70567	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.65364	3.57;-0.15	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.84326	2.69	0.80722	D	1	D;P;P	0.53462	0.96;0.932;0.932	D;P;P	0.64237	0.923;0.84;0.84	T	0.81072	-0.1098	10	0.48119	T	0.1	.	16.1339	0.81465	0.0:0.0:0.0:1.0	.	333;47;333	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	333	ENSP00000352925:I333T;ENSP00000347733:I333T	ENSP00000347733:I333T	I	+	2	0	TRRAP	98339038	1.000000	0.71417	0.899000	0.35326	0.998000	0.95712	7.915000	0.87484	2.271000	0.75665	0.533000	0.62120	ATT		0.488	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		3	111	0	0	0	1	0	3	111				
ANKRD27	84079	broad.mit.edu	37	19	33137489	33137489	+	Silent	SNP	T	T	C			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:33137489T>C	ENST00000306065.4	-	4	404	c.246A>G	c.(244-246)ttA>ttG	p.L82L	ANKRD27_ENST00000587352.1_Silent_p.L82L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	82					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AACCAGCTCCTAATTTAATCC	0.473																																						uc002ntn.1																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(244-246)ttA>ttG		Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.							74.0	74.0	74.0					19																	33137489		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33137489T>C	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.246A>G	19.37:g.33137489T>C						ANKRD27_uc002nto.1_Silent_p.L82L	p.L82L	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			3	402	-	Esophageal squamous(110;0.137)		82					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.246A>G	CCDS32986.1																																																																																				0.473	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		3	53	0	0	0	1	0	3	53				
ERF	2077	broad.mit.edu	37	19	42754077	42754077	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:42754077C>T	ENST00000222329.4	-	3	432	c.275G>A	c.(274-276)cGc>cAc	p.R92H	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R17H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	92					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGCAGAATGCGCTTGTTATA	0.478																																						uc002ote.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(274-276)cGc>cAc		Homo sapiens Ets2 repressor factor (ERF), mRNA.							284.0	252.0	263.0					19																	42754077		2203	4300	6503	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754077C>T	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.275G>A	19.37:g.42754077C>T	ENSP00000222329:p.Arg92His					ERF_uc002otd.4_5'UTR	p.R92H	NM_006494	NP_006485	P50548	ERF_HUMAN			2	433	-		Prostate(69;0.00682)	92					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.275G>A	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345065	0.82022	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.55413	0.52;0.52	4.87	3.84	0.44239	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.28274	0.84	0.51233	D	0.999916	D	0.89917	1.0	D	0.91635	0.999	T	0.62062	-0.6933	10	0.87932	D	0	.	11.322	0.49428	0.0:0.9111:0.0:0.0889	.	92	P50548	ERF_HUMAN	H	92;17	ENSP00000222329:R92H;ENSP00000388173:R17H	ENSP00000222329:R92H	R	-	2	0	ERF	47445917	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.845000	0.69437	1.440000	0.47531	0.655000	0.94253	CGC		0.478	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		4	162	0	0	0	1	0	4	162				
NLRP4	147945	broad.mit.edu	37	19	56369469	56369469	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:56369469A>G	ENST00000301295.6	+	3	1132	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	NLRP4_ENST00000346986.5_Missense_Mutation_p.Q237R|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q162R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	237	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGAGCTGCAGGGCGGCTTG	0.542																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(709-711)cAg>cGg		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							81.0	83.0	82.0					19																	56369469		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369469A>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.710A>G	19.37:g.56369469A>G	ENSP00000301295:p.Gln237Arg					NLRP4_uc002qmf.3_Missense_Mutation_p.Q162R|NLRP4_uc010etf.3_Missense_Mutation_p.Q68R	p.Q237R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	1132	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	237			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.710A>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	9.661	1.144099	0.21205	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78246	-1.16;-1.16	4.1	-4.75	0.03239	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.43010	0.1228	N	0.04297	-0.235	0.09310	N	1	B;B;B	0.13145	0.0;0.001;0.007	B;B;B	0.15052	0.0;0.005;0.012	T	0.41448	-0.9508	9	0.07482	T	0.82	.	0.1623	0.00104	0.3151:0.2509:0.1783:0.2557	.	237;162;237	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	R	237	ENSP00000301295:Q237R;ENSP00000344787:Q237R	ENSP00000301295:Q237R	Q	+	2	0	NLRP4	61061281	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.071000	0.14594	-1.300000	0.02341	0.533000	0.62120	CAG		0.542	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		4	101	0	0	0	1	0	4	101				
