#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
CPNE1	8904	broad.mit.edu	37	20	34220525	34220525	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr20:34220525G>A	ENST00000317619.3	-	5	617	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CPNE1_ENST00000397442.1_Missense_Mutation_p.R75C|RP1-309K20.6_ENST00000541176.2_3'UTR|CPNE1_ENST00000397443.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397446.1_Missense_Mutation_p.R75C|CPNE1_ENST00000317677.5_Missense_Mutation_p.R80C|CPNE1_ENST00000397445.1_Missense_Mutation_p.R75C|CPNE1_ENST00000352393.4_Missense_Mutation_p.R75C			Q99829	CPNE1_HUMAN	copine I	75	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATTCCAAAGCGTAGCTTCTGG	0.542																																						ENST00000317619.3																			0				breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(223-225)Cgc>Tgc		copine I							167.0	150.0	156.0					20																	34220525		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34220525G>A	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.223C>T	20.37:g.34220525G>A	ENSP00000326126:p.Arg75Cys					CPNE1_ENST00000397442.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397446.1_Missense_Mutation_p.R75C|CPNE1_ENST00000352393.4_Missense_Mutation_p.R75C|CPNE1_ENST00000317677.5_Missense_Mutation_p.R80C|CPNE1_ENST00000397445.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397443.1_Missense_Mutation_p.R75C	p.R75C			Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		5	617	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		75			C2 1.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.223C>T	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370026	0.61624	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664;ENST00000416778;ENST00000439806;ENST00000420363;ENST00000434795;ENST00000440240;ENST00000458038;ENST00000437100;ENST00000414711	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.26	4.32	0.51571	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.261295	0.30723	U	0.009014	T	0.79787	0.4506	M	0.78637	2.42	0.35125	D	0.767438	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.998	D;P;D;D;D	0.70487	0.93;0.892;0.93;0.969;0.91	D	0.83917	0.0299	10	0.87932	D	0	-3.5927	4.1036	0.10026	0.0831:0.135:0.5838:0.1981	.	80;75;75;75;79	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	C	75;80;75;75;75;75;75;75;75;75;75;75;75;75;75;75;75;75;75	ENSP00000336945:R75C;ENSP00000317257:R80C;ENSP00000326126:R75C;ENSP00000380588:R75C;ENSP00000380587:R75C;ENSP00000380585:R75C;ENSP00000380584:R75C;ENSP00000415597:R75C;ENSP00000390626:R75C;ENSP00000416962:R75C;ENSP00000404355:R75C;ENSP00000389662:R75C;ENSP00000387434:R75C;ENSP00000401915:R75C;ENSP00000409794:R75C;ENSP00000397638:R75C;ENSP00000390141:R75C;ENSP00000391483:R75C;ENSP00000409955:R75C	ENSP00000326126:R75C	R	-	1	0	CPNE1	33683939	0.852000	0.29690	1.000000	0.80357	0.997000	0.91878	2.031000	0.41117	1.456000	0.47831	0.655000	0.94253	CGC		0.542	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		13	145	0	0	0	1	0	13	145				
TAF2	6873	broad.mit.edu	37	8	120744381	120744381	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr8:120744381C>T	ENST00000378164.2	-	26	3681	c.3383G>A	c.(3382-3384)aGc>aAc	p.S1128N		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1128					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAGTGGAGCGCTTGCCGCTGG	0.443																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(3382-3384)aGc>aAc		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							225.0	217.0	220.0					8																	120744381		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120744381C>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3383G>A	8.37:g.120744381C>T	ENSP00000367406:p.Ser1128Asn						p.S1128N	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	3681	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1128					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3383G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	7.923	0.739053	0.15642	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.35236	2.29;1.32	5.89	5.01	0.66863	.	0.527919	0.21129	N	0.079690	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13737	-1.0498	10	0.35671	T	0.21	-0.6704	14.3398	0.66617	0.0:0.1545:0.8455:0.0	.	1128	Q6P1X5	TAF2_HUMAN	N	1128;304	ENSP00000367406:S1128N;ENSP00000436750:S304N	ENSP00000367406:S1128N	S	-	2	0	TAF2	120813562	0.636000	0.27207	0.009000	0.14445	0.004000	0.04260	3.563000	0.53784	1.486000	0.48398	-0.321000	0.08615	AGC		0.443	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		28	97	0	0	0	1	0	28	97				
RFWD3	55159	broad.mit.edu	37	16	74683055	74683055	+	Missense_Mutation	SNP	T	T	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:74683055T>A	ENST00000361070.4	-	4	864	c.767A>T	c.(766-768)gAt>gTt	p.D256V	RFWD3_ENST00000571750.1_Missense_Mutation_p.D256V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	256					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTTGCCTCCATCGATACATGT	0.363																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(766-768)gAt>gTt		ring finger and WD repeat domain 3							96.0	89.0	91.0					16																	74683055		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74683055T>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.767A>T	16.37:g.74683055T>A	ENSP00000354361:p.Asp256Val					RFWD3_ENST00000571750.1_Missense_Mutation_p.D256V	p.D256V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			4	864	-			256					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.767A>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	T	8.965	0.971516	0.18736	.	.	ENSG00000168411	ENST00000361070	T	0.19250	2.16	5.46	-4.09	0.03951	.	2.519730	0.01043	N	0.004332	T	0.14227	0.0344	N	0.22421	0.69	0.19300	N	0.99998	B	0.15141	0.012	B	0.14023	0.01	T	0.33163	-0.9879	10	0.48119	T	0.1	-13.4392	6.7401	0.23431	0.0:0.1612:0.2822:0.5565	.	256	Q6PCD5	RFWD3_HUMAN	V	256	ENSP00000354361:D256V	ENSP00000354361:D256V	D	-	2	0	RFWD3	73240556	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.151000	0.10175	-0.455000	0.07054	-0.242000	0.12053	GAT		0.363	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		5	70	0	0	0	1	0	5	70				
CDH15	1013	broad.mit.edu	37	16	89253860	89253860	+	Silent	SNP	C	C	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:89253860C>T	ENST00000289746.2	+	6	752	c.687C>T	c.(685-687)acC>acT	p.T229T		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ACAATCTGACCCTGCAGGTGG	0.622																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(685-687)acC>acT		cadherin 15, type 1, M-cadherin (myotubule)							96.0	63.0	74.0					16																	89253860		2198	4300	6498	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89253860C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.687C>T	16.37:g.89253860C>T							p.T229T	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	6	752	+			229			Cadherin 2.			Silent	SNP	ENST00000289746.2	37	c.687C>T	CCDS10976.1																																																																																				0.622	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		3	20	0	0	0	1	0	3	20				
DNM1P47	100216544	broad.mit.edu	37	15	102292810	102292810	+	RNA	SNP	G	G	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr15:102292810G>T	ENST00000561463.1	+	0	856									DNM1 pseudogene 47																		ACCTGCACTCGCGTGGGAACG	0.607																																						ENST00000561463.1																			0																																																			0							g.chr15:102292810G>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292810G>T														0	856	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	21	1	0	6.4e-05	1	7.31429e-05	3	21				
SZT2	23334	broad.mit.edu	37	1	43894060	43894060	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:43894060C>T	ENST00000562955.1	+	27	3898	c.3898C>T	c.(3898-3900)Ccc>Tcc	p.P1300S	SZT2_ENST00000372442.1_Missense_Mutation_p.P458S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1357					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCCTCATGCACCCCCAAGTCC	0.557																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(3898-3900)Ccc>Tcc		seizure threshold 2 homolog (mouse)							116.0	94.0	101.0					1																	43894060		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43894060C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3898C>T	1.37:g.43894060C>T	ENSP00000457168:p.Pro1300Ser					SZT2_ENST00000372442.1_Missense_Mutation_p.P458S	p.P1300S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			27	3898	+			1357					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.3898C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	9.946	1.218863	0.22373	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.21	5.21	0.72293	.	0.285236	0.35739	N	0.003004	T	0.35008	0.0917	N	0.22421	0.69	0.23023	N	0.99841	D	0.65815	0.995	P	0.58266	0.836	T	0.16100	-1.0414	9	0.06625	T	0.88	.	12.9641	0.58473	0.0:0.9152:0.0:0.0847	.	1300	Q5T011-5	.	S	458	.	ENSP00000361519:P458S	P	+	1	0	SZT2	43666647	0.626000	0.27120	1.000000	0.80357	0.968000	0.65278	1.336000	0.33850	2.606000	0.88127	0.655000	0.94253	CCC		0.557	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		24	43	0	0	0	1	0	24	43				
KIT	3815	broad.mit.edu	37	4	55573401	55573401	+	Missense_Mutation	SNP	T	T	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:55573401T>A	ENST00000288135.5	+	6	1160	c.1063T>A	c.(1063-1065)Ttc>Atc	p.F355I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	355	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAACAGAACCTTCACTGATAA	0.393		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1063-1065)Ttc>Atc		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						98.0	92.0	94.0					4																	55573401		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55573401T>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1063T>A	4.37:g.55573401T>A	ENSP00000288135:p.Phe355Ile						p.F355I	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	6	1160	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		355			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1063T>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	5.670	0.308280	0.10733	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.48201	0.82;0.82	5.84	0.00477	0.14060	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.196070	0.05898	N	0.629430	T	0.32224	0.0822	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.22034	-1.0228	10	0.30078	T	0.28	.	7.1975	0.25862	0.0:0.2025:0.1211:0.6764	.	355;355	P10721-2;P10721	.;KIT_HUMAN	I	355	ENSP00000288135:F355I;ENSP00000390987:F355I	ENSP00000288135:F355I	F	+	1	0	KIT	55268158	0.000000	0.05858	0.001000	0.08648	0.374000	0.29953	0.289000	0.18957	0.113000	0.18004	0.402000	0.26972	TTC		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			10	45	0	0	0	1	0	10	45				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	127	0	0	0	1	0	4	127				
GOLGA3	2802	broad.mit.edu	37	12	133359042	133359042	+	Missense_Mutation	SNP	C	C	A	rs374689565		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr12:133359042C>A	ENST00000450791.2	-	16	3488	c.3305G>T	c.(3304-3306)cGc>cTc	p.R1102L	GOLGA3_ENST00000204726.3_Missense_Mutation_p.R1102L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1102L			Q08378	GOGA3_HUMAN	golgin A3	1102					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCTCAAGGCGTTTTATCTT	0.478																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3304-3306)cGc>cTc		golgin A3							139.0	138.0	139.0					12																	133359042		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133359042C>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3305G>T	12.37:g.133359042C>A	ENSP00000410378:p.Arg1102Leu					GOLGA3_ENST00000450791.2_Missense_Mutation_p.R1102L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1102L	p.R1102L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	17	3863	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1102					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3305G>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654099	0.47362	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.34472	1.36;1.36;1.38	6.07	2.26	0.28386	.	0.298149	0.41712	D	0.000840	T	0.46347	0.1388	M	0.65498	2.005	0.80722	D	1	D;D	0.60160	0.987;0.98	P;P	0.56398	0.797;0.764	T	0.33033	-0.9884	10	0.54805	T	0.06	.	7.5227	0.27637	0.1188:0.6938:0.0:0.1875	.	1102;1102	Q08378-2;Q08378	.;GOGA3_HUMAN	L	1102	ENSP00000204726:R1102L;ENSP00000410378:R1102L;ENSP00000409303:R1102L	ENSP00000204726:R1102L	R	-	2	0	GOLGA3	131869115	0.997000	0.39634	0.983000	0.44433	0.003000	0.03518	1.163000	0.31798	0.155000	0.19261	-0.857000	0.03018	CGC		0.478	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	160	1	0	1	1	1	4	160				
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	lincRNA	SNP	C	C	G	rs1996904		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508									long intergenic non-protein coding RNA 969																		TGTCACGAATCTTGACAAATT	0.418																																						ENST00000445430.1																			0																																																			0							g.chr3:195404651C>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404651C>G														0	1508	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	67	0	0	0	1	0	3	67				
DFNA5	1687	broad.mit.edu	37	7	24749943	24749943	+	Silent	SNP	G	G	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr7:24749943G>A	ENST00000342947.3	-	6	1187	c.762C>T	c.(760-762)taC>taT	p.Y254Y	DFNA5_ENST00000419307.1_Silent_p.Y90Y|DFNA5_ENST00000409970.1_Silent_p.Y90Y|DFNA5_ENST00000409775.3_Silent_p.Y254Y|DFNA5_ENST00000545231.1_Silent_p.Y90Y|DFNA5_ENST00000559637.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	254					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGGGGTCCAGGTAGACAGAGT	0.473																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(268-270)taC>taT		deafness, autosomal dominant 5							119.0	115.0	116.0					7																	24749943		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24749943G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.762C>T	7.37:g.24749943G>A						DFNA5_ENST00000409970.1_Silent_p.Y90Y|DFNA5_ENST00000419307.1_Silent_p.Y90Y|DFNA5_ENST00000342947.3_Silent_p.Y254Y|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.Y254Y	p.Y90Y			O60443	DFNA5_HUMAN			8	1420	-			254					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.270C>T	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194479	0.22037	.	.	ENSG00000105928	ENST00000415480;ENST00000446822	.	.	.	5.47	2.67	0.31697	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37641	-0.9697	5	0.87932	D	0	0.0012	4.1773	0.10358	0.2517:0.1784:0.5699:0.0	.	.	.	.	I	43;79	.	ENSP00000414090:T205I	T	-	2	0	DFNA5	24716468	0.001000	0.12720	0.002000	0.10522	0.259000	0.26198	0.441000	0.21611	0.659000	0.30945	0.563000	0.77884	ACC		0.473	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		15	87	0	0	0	1	0	15	87				
TMEM198	130612	broad.mit.edu	37	2	220412578	220412578	+	Missense_Mutation	SNP	A	A	C			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr2:220412578A>C	ENST00000344458.2	+	4	1102	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P			Q66K66	TM198_HUMAN	transmembrane protein 198	173	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCACTCACCACCCTGGCCAC	0.697																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(517-519)Acc>Ccc		transmembrane protein 198							10.0	11.0	11.0					2																	220412578		2165	4265	6430	SO:0001583	missense	130612					integral to membrane		g.chr2:220412578A>C	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.517A>C	2.37:g.220412578A>C	ENSP00000343507:p.Thr173Pro					TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P	p.T173P			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1102	+		Renal(207;0.0376)	173			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.517A>C	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426537	0.62733	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	3.83	3.83	0.44106	.	0.048787	0.85682	D	0.000000	T	0.52141	0.1716	L	0.51422	1.61	0.31599	N	0.652939	D	0.61697	0.99	P	0.56434	0.798	T	0.61182	-0.7114	9	0.87932	D	0	-16.8248	7.6951	0.28590	0.9011:0.0:0.0989:0.0	.	173	Q66K66	TM198_HUMAN	P	173	.	ENSP00000343507:T173P	T	+	1	0	TMEM198	220120822	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.938000	0.48987	1.735000	0.51646	0.482000	0.46254	ACC		0.697	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		6	13	0	0	0	1	0	6	13				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	47	0	0	0	1	0	4	47				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	68	0	0	0	1	0	4	68				
CARD16	114769	broad.mit.edu	37	11	104915191	104915191	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr11:104915191C>A	ENST00000375706.2	-	2	219	c.202G>T	c.(202-204)Gca>Tca	p.A68S	CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.A68S|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.A68S|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						ATTTGGCATGCCTGTGCCCCT	0.463																																						ENST00000375706.2																			0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(202-204)Gca>Tca		caspase recruitment domain family, member 16							167.0	152.0	157.0					11																	104915191		2202	4296	6498	SO:0001583	missense	114769							g.chr11:104915191C>A		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.202G>T	11.37:g.104915191C>A	ENSP00000364858:p.Ala68Ser					CARD16_ENST00000525374.1_Missense_Mutation_p.A68S|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.A68S|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	p.A68S	NM_001017534.1	NP_001017534.1					2	219	-								Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.202G>T	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	15.22	2.769454	0.49680	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374;ENST00000528513	T;T;T;T	0.62941	1.53;1.53;1.53;-0.01	3.34	3.34	0.38264	DEATH-like (2);Caspase Recruitment (3);	0.117723	0.56097	U	0.000023	T	0.73241	0.3562	M	0.66560	2.04	0.09310	N	1	D;D	0.89917	0.977;1.0	D;D	0.79784	0.966;0.993	T	0.61734	-0.7002	10	0.41790	T	0.15	.	10.3278	0.43805	0.0:1.0:0.0:0.0	.	68;68	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	S	68;68;68;52	ENSP00000364858:A68S;ENSP00000364856:A68S;ENSP00000433700:A68S;ENSP00000432485:A52S	ENSP00000364856:A68S	A	-	1	0	CARD16	104420401	0.029000	0.19370	0.019000	0.16419	0.004000	0.04260	0.652000	0.24888	1.869000	0.54173	0.484000	0.47621	GCA		0.463	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			7	204	1	0	8.12818e-05	1	8.86711e-05	7	204				
KIT	3815	broad.mit.edu	37	4	55573421	55573421	+	Missense_Mutation	SNP	T	T	G			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:55573421T>G	ENST00000288135.5	+	6	1180	c.1083T>G	c.(1081-1083)gaT>gaG	p.D361E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	361	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATGGGAAGATTATCCCAAGT	0.403		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1081-1083)gaT>gaG		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						93.0	88.0	89.0					4																	55573421		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55573421T>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1083T>G	4.37:g.55573421T>G	ENSP00000288135:p.Asp361Glu						p.D361E	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	6	1180	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		361			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1083T>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	8.972	0.973239	0.18736	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.53640	0.61;0.61	5.84	0.663	0.17885	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.443560	0.21002	N	0.081854	T	0.28995	0.0720	L	0.50333	1.59	0.09310	N	1	B;B	0.18166	0.026;0.008	B;B	0.18561	0.022;0.011	T	0.24835	-1.0149	10	0.06236	T	0.91	.	1.6949	0.02859	0.1348:0.1543:0.1409:0.57	.	361;361	P10721-2;P10721	.;KIT_HUMAN	E	361	ENSP00000288135:D361E;ENSP00000390987:D361E	ENSP00000288135:D361E	D	+	3	2	KIT	55268178	0.482000	0.25948	0.013000	0.15412	0.642000	0.38348	0.554000	0.23407	-0.085000	0.12573	0.402000	0.26972	GAT		0.403	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			10	41	0	0	0	1	0	10	41				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	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		25	43	0	0	0	1	0	25	43				
KIT	3815	broad.mit.edu	37	4	55573419	55573419	+	Missense_Mutation	SNP	G	G	C			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:55573419G>C	ENST00000288135.5	+	6	1178	c.1081G>C	c.(1081-1083)Gat>Cat	p.D361H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	361	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D361N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAATGGGAAGATTATCCCAA	0.408		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		1	Substitution - Missense(1)	p.D361N(1)	endometrium(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1081-1083)Gat>Cat		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						93.0	88.0	90.0					4																	55573419		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55573419G>C	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1081G>C	4.37:g.55573419G>C	ENSP00000288135:p.Asp361His						p.D361H	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	6	1178	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		361			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1081G>C	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	1.640	-0.516825	0.04200	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.53423	0.62;0.62	5.66	-1.29	0.09288	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.443560	0.21002	N	0.081854	T	0.19406	0.0466	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.26467	-1.0102	10	0.09338	T	0.73	.	7.6707	0.28457	0.2521:0.4771:0.2708:0.0	.	361;361	P10721-2;P10721	.;KIT_HUMAN	H	361	ENSP00000288135:D361H;ENSP00000390987:D361H	ENSP00000288135:D361H	D	+	1	0	KIT	55268176	0.029000	0.19370	0.002000	0.10522	0.550000	0.35303	0.154000	0.16343	-0.018000	0.14079	-0.479000	0.04858	GAT		0.408	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			10	43	0	0	0	1	0	10	43				
DNAH17	8632	broad.mit.edu	37	17	76440797	76440797	+	Missense_Mutation	SNP	G	G	C			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr17:76440797G>C	ENST00000585328.1	-	71	11526	c.11402C>G	c.(11401-11403)tCg>tGg	p.S3801W	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.S3792W	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3792					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGGGCTTCCGACTCCACCAG	0.587																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(11374-11376)tCg>tGg		dynein, axonemal, heavy chain 17							75.0	57.0	63.0					17																	76440797		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76440797G>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11402C>G	17.37:g.76440797G>C	ENSP00000465516:p.Ser3801Trp					DNAH17_ENST00000585328.1_Missense_Mutation_p.S3801W|DNAH17_ENST00000586052.1_5'UTR	p.S3792W					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		71	11499	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.11375C>G		.	.	.	.	.	.	.	.	.	.	G	20.3	3.971015	0.74246	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.10099	2.91	4.99	4.99	0.66335	.	0.786984	0.11388	N	0.569118	T	0.53883	0.1824	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67130	-0.5748	10	0.72032	D	0.01	.	13.6215	0.62140	0.0772:0.0:0.9228:0.0	.	3801	E7EUM8	.	W	3801;3792	ENSP00000374490:S3792W	ENSP00000300671:S3801W	S	-	2	0	DNAH17	73952392	1.000000	0.71417	0.962000	0.40283	0.929000	0.56500	4.466000	0.60148	2.309000	0.77851	0.561000	0.74099	TCG		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	27	0	0	0	1	0	7	27				
DNAH3	55567	broad.mit.edu	37	16	21011623	21011623	+	Missense_Mutation	SNP	A	A	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:21011623A>T	ENST00000261383.3	-	43	6343	c.6344T>A	c.(6343-6345)aTc>aAc	p.I2115N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2115	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGACATGATGATATCCTGGGT	0.522																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6343-6345)aTc>aAc		dynein, axonemal, heavy chain 3							174.0	136.0	149.0					16																	21011623		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21011623A>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6344T>A	16.37:g.21011623A>T	ENSP00000261383:p.Ile2115Asn					DNAH3_ENST00000415178.1_3'UTR	p.I2115N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	43	6343	-			2115			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6344T>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694337	0.88830	.	.	ENSG00000158486	ENST00000261383	T	0.37058	1.22	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);	0.061993	0.64402	D	0.000007	T	0.61615	0.2361	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65903	-0.6055	10	0.87932	D	0	.	15.953	0.79859	1.0:0.0:0.0:0.0	.	2115	Q8TD57	DYH3_HUMAN	N	2115	ENSP00000261383:I2115N	ENSP00000261383:I2115N	I	-	2	0	DNAH3	20919124	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.307000	0.78920	2.174000	0.68829	0.383000	0.25322	ATC		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		9	70	0	0	0	1	0	9	70				
ESPN	83715	broad.mit.edu	37	1	6512140	6512140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:6512140delA	ENST00000377828.1	+	10	2477	c.2309delA	c.(2308-2310)gagfs	p.E771fs	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Frame_Shift_Del_p.E205fs|ESPN_ENST00000416731.1_Frame_Shift_Del_p.E205fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	771	Glu-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGAGGAGGAGGAGCAGAGG	0.682																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(2308-2310)ggfs		espin							14.0	18.0	16.0					1																	6512140		2180	4264	6444	SO:0001589	frameshift_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6512140delA	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2309delA	1.37:g.6512140delA	ENSP00000367059:p.Glu771fs					ESPN_ENST00000461727.1_Frame_Shift_Del_p.E205fs|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Frame_Shift_Del_p.E205fs	p.E771fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	10	2477	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	771			Glu-rich.		Q6XYB2|Q9H0A2|Q9Y329	Frame_Shift_Del	DEL	ENST00000377828.1	37	c.2309delA	CCDS70.1																																																																																				0.682	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		2	4						2	4	---	---	---	---
RP11-739N20.2	0	broad.mit.edu	37	1	204363979	204363980	+	RNA	INS	-	-	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:204363979_204363980insA	ENST00000443515.1	+	0	146																											atttgtttttcaaaaaaaaaaa	0.307																																						ENST00000443515.1																			0																																																			0							g.chr1:204363979_204363980insA																													1.37:g.204363990_204363990dupA														0	146	+									RNA	INS	ENST00000443515.1	37																																																																																						0.307	RP11-739N20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000087972.1			2	4						2	4	---	---	---	---
UBA6-AS1	550112	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	ACACAT	rs141790878|rs2627241		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:68632418_68632419insACACAT	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA					UBA6 antisense RNA 1 (head to head)																		cacacacacacaTATATATAct	0.431																																						ENST00000500538.2																			0																																																			0							g.chr4:68632418_68632419insACACAT			4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68632418_68632419insACACAT						RP11-453E17.1_ENST00000502758.1_RNA								0	1905	+									RNA	INS	ENST00000500538.2	37																																																																																						0.431	UBA6-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000362199.2			6	6						6	6	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q|MAML3_ENST00000398940.1_Splice_Site_p.A37del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	88						7	88	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		8	56						8	56	---	---	---	---
SLC31A2	1318	broad.mit.edu	37	9	115913263	115913265	+	De_novo_Start_InFrame	DEL	GCG	GCG	-			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr9:115913263_115913265delGCG	ENST00000259392.3	+	0	42_44				SLC31A2_ENST00000490809.1_3'UTR	NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2						cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	GGTAGCTATCgcggcggcggcgg	0.744																																						ENST00000259392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7								solute carrier family 31 (copper transporter), member 2				5,639		2,1,319						1.9	0.0			1	13,2361		4,5,1178	no	utr-5	SLC31A2	NM_001860.2		6,6,1497	A1A1,A1R,RR		0.5476,0.7764,0.5964				18,3000						1318					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:115913263_115913265delGCG		CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"""Solute carriers"""	11017	protein-coding gene	gene with protein product	"""copper transporter 2"""	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037		9.37:g.115913272_115913274delGCG						SLC31A2_ENST00000490809.1_3'UTR		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN			0	42_44	+									Translation_Start_Site	DEL	ENST00000259392.3	37		CCDS6788.1																																																																																				0.744	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055509.2	NM_001860		2	4						2	4	---	---	---	---
MCU	90550	broad.mit.edu	37	10	74451955	74451956	+	In_Frame_Ins	INS	-	-	GGGGCG			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr10:74451955_74451956insGGGGCG	ENST00000373053.3	+	1	67_68	c.46_47insGGGGCG	c.(46-48)cgg>cGGGGCGgg	p.22_23insGG	MCU_ENST00000536019.1_5'Flank|MCU_ENST00000357157.6_In_Frame_Ins_p.22_23insGG	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	22					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CCTCTCCTCTCGGggcggcggc	0.767																																						ENST00000373053.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(46-48)ggg>GGGGCGggg		mitochondrial calcium uniporter				14,2726		6,2,1362						4.4	1.0			3	64,6098		13,38,3030	no	coding	MCU	NM_138357.1		19,40,4392	A1A1,A1R,RR		1.0386,0.5109,0.8762				78,8824				SO:0001652	inframe_insertion	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74451955_74451956insGGGGCG	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.47_52dupGGGGCG	10.37:g.74451956_74451961dupGGGGCG	ENSP00000362144:p.Gly24_Gly25dup					MCU_ENST00000357157.6_In_Frame_Ins_p.16_16G>GAG	p.16_16G>GAG	NM_138357.1	NP_612366.1	Q8NE86	MCU_HUMAN			1	67_68	+			16					B2RDF3|B3KXV7|Q96FL3	In_Frame_Ins	INS	ENST00000373053.3	37	c.46_47insGGGGCG	CCDS7317.1																																																																																				0.767	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		3	5						3	5	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-309)ggt>gg		keratin associated protein 5-2																																				SO:0001651	inframe_deletion	440021					keratin filament		g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del					KRTAP5-AS1_ENST00000424148.1_RNA	p.GSKGGCGSCGG93del	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	322_351	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		9	295						9	295	---	---	---	---
RP11-179A10.1	0	broad.mit.edu	37	11	11158591	11158592	+	lincRNA	DEL	AG	AG	-	rs375824832		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr11:11158591_11158592delAG	ENST00000525758.1	+	0	108																											aaaaaaaaaaagaaaaaaaaat	0.391																																						ENST00000525758.1																			0																																																			0							g.chr11:11158591_11158592delAG																													11.37:g.11158591_11158592delAG														0	108	+									RNA	DEL	ENST00000525758.1	37																																																																																						0.391	RP11-179A10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000386930.1			4	8						4	8	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-	rs200312236|rs202119309		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr12:11546856_11546858delAGA	ENST00000389362.4	-	3	189_191	c.154_156delTCT	c.(154-156)tctdel	p.S52del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	52						extracellular region (GO:0005576)		p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATGGGGGACCT	0.557																																						ENST00000389362.4																			3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)	stomach(3)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(154-156)del		proline-rich protein BstNI subfamily 2				14,4130		3,8,2061						1.0	0.0			144	22,8112		1,20,4046	no	coding	PRB2	NM_006248.3		4,28,6107	A1A1,A1R,RR		0.2705,0.3378,0.2932				36,12242				SO:0001651	inframe_deletion	653247							g.chr12:11546856_11546858delAGA	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.154_156delTCT	12.37:g.11546856_11546858delAGA	ENSP00000374013:p.Ser52del					PRB1_ENST00000546254.1_Intron	p.S52del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	189_191	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.154_156delTCT	CCDS41757.2																																																																																				0.557	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	542						7	542	---	---	---	---
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr12:12814274delT	ENST00000540510.1	-	2	1301	c.1109delA	c.(1108-1110)aacfs	p.N370fs	GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs			P46093	GPR4_HUMAN	G protein-coupled receptor 19	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398																																						ENST00000540510.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1108-1110)acfs		G protein-coupled receptor 19							195.0	181.0	186.0					12																	12814274		2203	4300	6503	SO:0001589	frameshift_variant	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814274delT		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1109delA	12.37:g.12814274delT	ENSP00000441832:p.Asn370fs					GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs	p.N370fs			Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	1301	-		Prostate(47;0.0802)	370					A8K3T3|B0M0K1|Q6NWM4	Frame_Shift_Del	DEL	ENST00000540510.1	37	c.1109delA	CCDS8652.1																																																																																				0.398	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		8	179						8	179	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		18	60						18	60	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28836960	28836961	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:28836960_28836961insA	ENST00000336783.4	+	3	519_520	c.352_353insA	c.(352-354)tacfs	p.Y118fs	ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.Y118fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	118	Interaction with MPL.				regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGAAGGCGTCTACAACAATTCC	0.426																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(352-354)caafs		ataxin 2-like																																				SO:0001589	frameshift_variant	11273					membrane		g.chr16:28836960_28836961insA		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.353dupA	16.37:g.28836961_28836961dupA	ENSP00000338718:p.Tyr118fs					ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.Q118fs	p.Q118fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			3	519_520	+			118			Interaction with MPL.		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Ins	INS	ENST00000336783.4	37	c.352_353insA	CCDS10641.1																																																																																				0.426	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		10	176						10	176	---	---	---	---
LOC100131347	100131347	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs201590817|rs200042883		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.55																																						ENST00000583447.1																			0																																																			0							g.chr17:37213527_37213528insTTG																													17.37:g.37213527_37213528insTTG								NR_036551.1						0	141	+									RNA	INS	ENST00000583447.1	37																																																																																						0.550	CTD-2206N4.4-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444106.1			2	4						2	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			6	13						6	13	---	---	---	---
