#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
CROCCP2	84809	broad.mit.edu	37	1	16953672	16953672	+	lincRNA	SNP	C	C	T	rs3738597	byFrequency	TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:16953672C>T	ENST00000412962.1	-	0	589							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCGGTCTTCTCGGCCTGCAGC	0.652																																						ENST00000412962.1																			0																																																			0							g.chr1:16953672C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953672C>T														0	589	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.652	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		9	48	0	0	0	1	0	9	48				
FLG2	388698	broad.mit.edu	37	1	152329145	152329145	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:152329145C>T	ENST00000388718.5	-	3	1189	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	373	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTTGAGCCTGTTCTCCAT	0.468																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1117-1119)Ggc>Agc		filaggrin family member 2							140.0	128.0	132.0					1																	152329145		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329145C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1117G>A	1.37:g.152329145C>T	ENSP00000373370:p.Gly373Ser					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G373S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1189	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		373			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1117G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.773	0.926345	0.18056	.	.	ENSG00000143520	ENST00000388718	T	0.17213	2.29	5.24	-2.29	0.06805	.	.	.	.	.	T	0.07234	0.0183	M	0.61703	1.905	0.09310	N	1	D	0.53312	0.959	B	0.43623	0.425	T	0.30650	-0.9971	9	0.27785	T	0.31	-1.3361	10.0467	0.42190	0.0:0.4283:0.0:0.5717	.	373	Q5D862	FILA2_HUMAN	S	373	ENSP00000373370:G373S	ENSP00000373370:G373S	G	-	1	0	FLG2	150595769	0.972000	0.33761	0.000000	0.03702	0.132000	0.20833	0.004000	0.13106	-0.324000	0.08589	0.655000	0.94253	GGC		0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		34	52	0	0	0	1	0	34	52				
MOB1A	55233	broad.mit.edu	37	2	74392437	74392437	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr2:74392437G>A	ENST00000396049.4	-	4	510	c.317C>T	c.(316-318)cCa>cTa	p.P106L	MOB1A_ENST00000409969.2_Missense_Mutation_p.P106L|MOB1A_ENST00000497054.1_5'UTR	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	106					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										ACATTTGATTGGCTTTTTAAT	0.303																																						ENST00000396049.3																			0											c.(316-318)cCa>cTa		MOB kinase activator 1A							74.0	70.0	71.0					2																	74392437		1824	4077	5901	SO:0001583	missense	55233				hippo signaling cascade		metal ion binding|protein binding	g.chr2:74392437G>A		CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"""MOB kinase activators"""	16015	protein-coding gene	gene with protein product		609281	"""chromosome 2 open reading frame 6"", ""MOB1, Mps One Binder kinase activator-like 1B (yeast)"", ""MOB1 Mps One Binder homolog A (yeast)"""	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.317C>T	2.37:g.74392437G>A	ENSP00000379364:p.Pro106Leu					MOB1A_ENST00000409969.2_Missense_Mutation_p.P106L|MOB1A_ENST00000497054.1_5'UTR	p.P106L	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN			4	510	-			106					Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Missense_Mutation	SNP	ENST00000396049.4	37	c.317C>T	CCDS46340.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202248	0.94997	.	.	ENSG00000114978	ENST00000396049;ENST00000409969	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.92077	3.27	0.80722	D	1	D;D	0.63880	0.993;0.972	D;P	0.64042	0.921;0.858	D	0.88319	0.2961	9	0.87932	D	0	.	16.2862	0.82722	0.0:0.0:1.0:0.0	.	106;106	Q9H8S9-2;Q9H8S9	.;MOB1A_HUMAN	L	106	.	ENSP00000379364:P106L	P	-	2	0	MOBKL1B	74245945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.482000	0.97935	2.697000	0.92050	0.563000	0.77884	CCA		0.303	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328200.2	NM_018221		5	9	0	0	0	1	0	5	9				
VPS13D	55187	broad.mit.edu	37	1	12382678	12382678	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:12382678C>G	ENST00000358136.3	+	34	7920	c.7790C>G	c.(7789-7791)gCt>gGt	p.A2597G	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2597G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.A2597D(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAGAGCAAGCTAATGCTGCA	0.473																																						ENST00000358136.3																			1	Substitution - Missense(1)	p.A2597D(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7789-7791)gCt>gGt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							135.0	125.0	129.0					1																	12382678		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12382678C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7790C>G	1.37:g.12382678C>G	ENSP00000350854:p.Ala2597Gly					VPS13D_ENST00000356315.4_Missense_Mutation_p.A2597G	p.A2597G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	34	7920	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2597						Missense_Mutation	SNP	ENST00000358136.3	37	c.7790C>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.288692|2.288692	0.40494|0.40494	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.55930|.	0.49;0.49|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.352908|.	0.31370|.	N|.	0.007780|.	T|T	0.71384|0.71384	0.3333|0.3333	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	P;B;B|.	0.42871|.	0.792;0.002;0.001|.	B;B;B|.	0.37731|.	0.257;0.004;0.002|.	T|T	0.65849|0.65849	-0.6068|-0.6068	10|5	0.25751|.	T|.	0.34|.	.|.	20.1802|20.1802	0.98196|0.98196	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	504;2597;2597|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	G|V	2597|1420	ENSP00000348666:A2597G;ENSP00000350854:A2597G|.	ENSP00000348666:A2597G|.	A|L	+|+	2|1	0|2	VPS13D|VPS13D	12305265|12305265	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.243000|0.243000	0.25628|0.25628	4.726000|4.726000	0.61986|0.61986	2.777000|2.777000	0.95525|0.95525	0.655000|0.655000	0.94253|0.94253	GCT|CTA		0.473	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		29	49	0	0	0	1	0	29	49				
SPTBN4	57731	broad.mit.edu	37	19	41021270	41021270	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr19:41021270G>A	ENST00000352632.3	+	15	2904	c.2818G>A	c.(2818-2820)Gtg>Atg	p.V940M	SPTBN4_ENST00000598249.1_Missense_Mutation_p.V940M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V940M|SPTBN4_ENST00000344104.3_Missense_Mutation_p.V940M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V940M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	940					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGTTCTGGACGTGAACCACAC	0.612																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(2818-2820)Gtg>Atg		spectrin, beta, non-erythrocytic 4							53.0	39.0	44.0					19																	41021270		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41021270G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2818G>A	19.37:g.41021270G>A	ENSP00000263373:p.Val940Met					SPTBN4_ENST00000338932.3_Missense_Mutation_p.V940M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V940M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V940M|SPTBN4_ENST00000344104.3_Missense_Mutation_p.V940M	p.V940M			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		15	2904	+			940					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.2818G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358446	0.82243	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54866	0.55;0.55;0.55	4.34	4.34	0.51931	.	0.240484	0.26723	N	0.022825	T	0.74306	0.3699	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.979;0.999	T	0.79401	-0.1819	10	0.72032	D	0.01	.	15.7914	0.78367	0.0:0.0:1.0:0.0	.	940;940	Q9H254;Q71S06	SPTN4_HUMAN;.	M	940	ENSP00000263373:V940M;ENSP00000340345:V940M;ENSP00000340741:V940M	ENSP00000340345:V940M	V	+	1	0	SPTBN4	45713110	1.000000	0.71417	0.996000	0.52242	0.841000	0.47740	6.526000	0.73799	2.256000	0.74724	0.491000	0.48974	GTG		0.612	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	14	0	0	0	1	0	3	14				
CROCCP2	84809	broad.mit.edu	37	1	16946534	16946534	+	lincRNA	SNP	C	C	T			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:16946534C>T	ENST00000412962.1	-	0	1000				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGGGCCAGGACTGGACGCGTG	0.682																																						ENST00000412962.1																			0																																																			0							g.chr1:16946534C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946534C>T														0	1000	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.682	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	5	0	0	0	1	0	3	5				
TRAPPC5	126003	broad.mit.edu	37	19	7747624	7747624	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr19:7747624C>G	ENST00000317378.5	+	2	672	c.485C>G	c.(484-486)gCg>gGg	p.A162G	TRAPPC5_ENST00000595985.1_Missense_Mutation_p.A95G|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.A162G|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.A162G|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	162					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						AAGGTCACGGCGCACTGGCAC	0.652																																						ENST00000317378.5																			0				NS(1)|lung(2)	3						c.(484-486)gCg>gGg		trafficking protein particle complex 5							24.0	29.0	28.0					19																	7747624		2178	4265	6443	SO:0001583	missense	126003				vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:7747624C>G	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.485C>G	19.37:g.7747624C>G	ENSP00000316990:p.Ala162Gly					CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.A95G|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.A162G|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.A162G	p.A162G	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN			2	672	+			162					A8K7I6	Missense_Mutation	SNP	ENST00000317378.5	37	c.485C>G	CCDS42490.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890770	0.52014	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.55052	0.54;0.54	3.93	3.93	0.45458	NO signalling/Golgi transport  ligand-binding domain (1);	0.149693	0.43416	U	0.000578	T	0.62429	0.2427	M	0.89030	3	0.47621	D	0.999477	B	0.31054	0.306	B	0.36378	0.223	T	0.70371	-0.4890	10	0.72032	D	0.01	-1.7404	13.4726	0.61290	0.0:1.0:0.0:0.0	.	162	Q8IUR0	TPPC5_HUMAN	G	162	ENSP00000316990:A162G;ENSP00000399025:A162G	ENSP00000316990:A162G	A	+	2	0	TRAPPC5	7653624	0.954000	0.32549	0.999000	0.59377	0.963000	0.63663	2.074000	0.41529	1.767000	0.52121	0.306000	0.20318	GCG		0.652	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		6	6	0	0	0	1	0	6	6				
CHEK2P2	646096	broad.mit.edu	37	15	20489432	20489432	+	RNA	SNP	G	G	A			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr15:20489432G>A	ENST00000555186.1	+	0	420					NR_038836.1				checkpoint kinase 2 pseudogene 2																		GTCACTGAAGGACCAGATCAC	0.418																																						ENST00000555186.1																			0																																																			0							g.chr15:20489432G>A			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20489432G>A								NR_038836.1						0	420	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.418	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		7	128	0	0	0	1	0	7	128				
CTAGE5	4253	broad.mit.edu	37	14	39763206	39763206	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr14:39763206G>A	ENST00000280083.3	+	7	812	c.498G>A	c.(496-498)atG>atA	p.M166I	CTAGE5_ENST00000341502.5_Missense_Mutation_p.M166I|CTAGE5_ENST00000348007.3_Missense_Mutation_p.M166I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.M137I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.M137I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.M86I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.M171I|CTAGE5_ENST00000556148.1_Missense_Mutation_p.M91I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.M137I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.M154I|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.M701I			O15320	CTGE5_HUMAN	CTAGE family, member 5	166					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GTTTCTAGATGGCGGATATTT	0.343																																						ENST00000553728.1																			0											c.(2101-2103)atG>atA									113.0	121.0	118.0					14																	39763206		2203	4297	6500	SO:0001583	missense	0							g.chr14:39763206G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.498G>A	14.37:g.39763206G>A	ENSP00000280083:p.Met166Ile					CTAGE5_ENST00000280083.3_Missense_Mutation_p.M166I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.M137I|CTAGE5_ENST00000348007.3_Missense_Mutation_p.M166I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.M86I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.M171I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.M154I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.M137I|CTAGE5_ENST00000556148.1_Missense_Mutation_p.M91I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.M137I|CTAGE5_ENST00000341502.5_Missense_Mutation_p.M166I	p.M701I							11	2316	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.2103G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	7.300	0.612936	0.14066	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000555716;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.15	2.22	0.28083	.	0.175198	0.27581	N	0.018733	T	0.24509	0.0594	L	0.53249	1.67	0.24630	N	0.993626	P;P;B;P;B;P	0.41345	0.746;0.58;0.346;0.58;0.346;0.58	B;B;B;B;B;B	0.43658	0.426;0.26;0.166;0.26;0.166;0.26	T	0.06534	-1.0821	9	.	.	.	.	5.967	0.19330	0.175:0.1591:0.6659:0.0	.	128;171;166;166;137;154	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	I	701;128;154;86;128;137;166;171;166;91;166;137	ENSP00000452252:M701I;ENSP00000452395:M128I;ENSP00000343897:M154I;ENSP00000450869:M86I;ENSP00000379468:M137I;ENSP00000339286:M166I;ENSP00000379462:M171I;ENSP00000280083:M166I;ENSP00000452562:M91I;ENSP00000343912:M166I;ENSP00000450449:M137I	.	M	+	3	0	CTAGE5;RP11-407N17.3	38832957	0.678000	0.27586	0.628000	0.29241	0.327000	0.28475	0.655000	0.24933	0.639000	0.30564	0.455000	0.32223	ATG		0.343	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		44	59	0	0	0	1	0	44	59				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	37	0	0	0	1	0	26	37				
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2467-2469)afs		membrane associated guanylate kinase, WW and PDZ domain containing 1																																				SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372850_65372851delTC	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs					MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000402939.2_Intron	p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2466_2467	-		Lung NSC(201;0.0016)	823			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	c.2467_2468delGA	CCDS33781.1																																																																																				0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		7	67						7	67	---	---	---	---
HLA-F-AS1	285830	broad.mit.edu	37	6	29709414	29709414	+	RNA	DEL	A	A	-	rs147024472		TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr6:29709414delA	ENST00000458236.1	-	0	349									HLA-F antisense RNA 1																		tagtttccccatttcatagat	0.458																																						ENST00000458236.1																			0																																																			0							g.chr6:29709414delA	AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29709414delA														0	349	-									RNA	DEL	ENST00000458236.1	37																																																																																						0.458	HLA-F-AS1-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000471862.1	NR_026972		3	4						3	4	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		2	4						2	4	---	---	---	---
SPECC1	92521	broad.mit.edu	37	17	20225136	20225136	+	IGR	DEL	A	A	-	rs112185038	byFrequency	TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr17:20225136delA	ENST00000395530.2	+	0	8133				AC004702.2_ENST00000580225.1_lincRNA|U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TTACTATTGCAAAAGTGTTGG	0.453													AAAA|AAAA|AAA|deletion	145	0.0289537	0.0098	0.0418	5008	,	,		17470	0.0		0.0696	False		,,,				2504	0.0337					ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:20225136delA	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20225136delA						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	DEL	ENST00000395530.2	37		CCDS42281.1																																																																																				0.453	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		4	5						4	5	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48653257	48653257	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr17:48653257delC	ENST00000359106.5	+	8	1494	c.1494delC	c.(1492-1494)cacfs	p.H504fs	CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.H504fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	504	Poly-His.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGcaccaccaccaccaccatc	0.706																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1492-1494)cafs		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						10.0	17.0	15.0					17																	48653257		2059	4192	6251	SO:0001589	frameshift_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48653257delC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1494delC	17.37:g.48653257delC	ENSP00000352011:p.His504fs					CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.H504fs	p.H504fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	1866	+	Breast(11;6.7e-17)		504			Poly-His.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	ENST00000359106.5	37	c.1494delC	CCDS45730.1																																																																																				0.706	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		2	4						2	4	---	---	---	---
