#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
GBF1	8729	broad.mit.edu	37	10	104120022	104120022	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr10:104120022G>A	ENST00000369983.3	+	12	1519	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	420					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCACACGACCGCCATAACTCA	0.582																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1258-1260)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							270.0	266.0	267.0					10																	104120022		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104120022G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1259G>A	10.37:g.104120022G>A	ENSP00000359000:p.Arg420His					GBF1_ENST00000476019.1_Intron	p.R420H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	12	1519	+		Colorectal(252;0.0236)	420					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1259G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612547	0.96637	.	.	ENSG00000107862	ENST00000369983	T	0.42513	0.97	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.991;0.999	T	0.57723	-0.7762	10	0.35671	T	0.21	-12.3815	19.4065	0.94649	0.0:0.0:1.0:0.0	.	420;420;420	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	420	ENSP00000359000:R420H	ENSP00000359000:R420H	R	+	2	0	GBF1	104110012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.826000	0.99387	2.580000	0.87095	0.650000	0.86243	CGC		0.582	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			6	300	0	0	0	0.001984	0	6	300				
CACNA1D	776	broad.mit.edu	37	3	53757947	53757947	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:53757947G>A	ENST00000350061.5	+	14	2532	c.2021G>A	c.(2020-2022)gGc>gAc	p.G674D	CACNA1D_ENST00000288139.4_Missense_Mutation_p.G694D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G674D	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	674					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTTTGGCGGCAAGTTTAAT	0.458																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2080-2082)gGc>gAc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						141.0	130.0	134.0					3																	53757947		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757947G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2021G>A	3.37:g.53757947G>A	ENSP00000288133:p.Gly674Asp					CACNA1D_ENST00000350061.5_Missense_Mutation_p.G674D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G674D	p.G694D	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2199	+			674					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2081G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332736	0.95733	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	M	0.91249	3.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.99013	1.0815	10	0.87932	D	0	.	20.417	0.99027	0.0:0.0:1.0:0.0	.	674;367;674;694	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	D	674;694;674;367	ENSP00000288133:G674D;ENSP00000288139:G694D;ENSP00000409174:G674D;ENSP00000418014:G367D	ENSP00000288139:G694D	G	+	2	0	CACNA1D	53732987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.832000	0.97577	0.585000	0.79938	GGC		0.458	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		4	179	0	0	0	0.009096	0	4	179				
SIN3B	23309	broad.mit.edu	37	19	16952630	16952630	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:16952630C>T	ENST00000248054.5	+	4	454	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	SIN3B_ENST00000379803.1_Missense_Mutation_p.P145S|SIN3B_ENST00000596802.1_Missense_Mutation_p.P145S|CTD-2538G9.5_ENST00000600987.1_RNA					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCAGCAGGTGCCGTATAAAGA	0.522																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(433-435)Ccg>Tcg		SIN3 transcription regulator family member B							100.0	92.0	95.0					19																	16952630		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16952630C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.433C>T	19.37:g.16952630C>T	ENSP00000248054:p.Pro145Ser					SIN3B_ENST00000248054.5_Missense_Mutation_p.P145S|SIN3B_ENST00000596802.1_Missense_Mutation_p.P145S	p.P145S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			4	447	+			145						Missense_Mutation	SNP	ENST00000248054.5	37	c.433C>T		.	.	.	.	.	.	.	.	.	.	C	15.93	2.979374	0.53827	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.50001	0.76;0.8	5.41	1.99	0.26369	.	0.814419	0.11165	N	0.592609	T	0.29620	0.0739	N	0.25332	0.735	0.09310	N	1	B;B;B	0.13145	0.001;0.0;0.007	B;B;B	0.14023	0.003;0.001;0.01	T	0.25012	-1.0144	10	0.13108	T	0.6	0.8534	6.6648	0.23035	0.0:0.6936:0.1448:0.1616	.	145;145;145	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	S	145	ENSP00000369131:P145S;ENSP00000248054:P145S	ENSP00000248054:P145S	P	+	1	0	SIN3B	16813630	0.041000	0.20044	0.002000	0.10522	0.643000	0.38383	0.989000	0.29629	0.621000	0.30232	0.557000	0.71058	CCG		0.522	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		4	119	0	0	0	0.000602	0	4	119				
ZKSCAN1	7586	broad.mit.edu	37	7	99631796	99631796	+	Silent	SNP	C	C	T	rs147984747	byFrequency	TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr7:99631796C>T	ENST00000324306.6	+	6	1902	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	ZKSCAN1_ENST00000535170.1_Silent_p.G343G|ZKSCAN1_ENST00000426572.1_Silent_p.G520G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	556					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATGCATTTGGCGCGTTCCTGA	0.498																																						ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1666-1668)ggC>ggT		zinc finger with KRAB and SCAN domains 1		C		2,4404	4.2+/-10.8	0,2,2201	97.0	91.0	93.0		1668	-7.7	0.9	7	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	ZKSCAN1	NM_003439.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		556/564	99631796	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631796C>T	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1668C>T	7.37:g.99631796C>T						ZKSCAN1_ENST00000426572.1_Silent_p.G520G|ZKSCAN1_ENST00000535170.1_Silent_p.G343G	p.G556G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1902	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		556					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	c.1668C>T	CCDS34698.1																																																																																				0.498	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		5	205	0	0	0	0.000602	0	5	205				
CTNNB1	1499	broad.mit.edu	37	3	41280717	41280717	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:41280717C>A	ENST00000349496.5	+	15	2510	c.2230C>A	c.(2230-2232)Cct>Act	p.P744T	CTNNB1_ENST00000396183.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P744T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P737T|CTNNB1_ENST00000471014.1_3'UTR	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	744					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGCCACCACCCTGGTGCTGA	0.557		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(2230-2232)Cct>Act		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						81.0	73.0	76.0					3																	41280717		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41280717C>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2230C>A	3.37:g.41280717C>A	ENSP00000344456:p.Pro744Thr					CTNNB1_ENST00000396183.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P744T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P737T	p.P744T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	15	2510	+			744					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.2230C>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082871	0.36758	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	L	0.43152	1.355	0.80722	D	1	B;B	0.27068	0.167;0.0	B;B	0.21360	0.034;0.001	T	0.42275	-0.9461	10	0.49607	T	0.09	-28.1093	19.7949	0.96477	0.0:1.0:0.0:0.0	.	672;744	B4DSW9;P35222	.;CTNB1_HUMAN	T	744;744;744;737;744	ENSP00000385604:P744T;ENSP00000379486:P744T;ENSP00000344456:P744T;ENSP00000411226:P737T;ENSP00000379488:P744T	ENSP00000344456:P744T	P	+	1	0	CTNNB1	41255721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.679000	0.91253	0.557000	0.71058	CCT		0.557	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		6	90	1	0	3.59834e-05	0.001168	4.87516e-05	6	90				
TCEB2	6923	broad.mit.edu	37	16	2825510	2825510	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr16:2825510G>A	ENST00000409906.4	-	3	243	c.186C>T	c.(184-186)ttC>ttT	p.F62F	TCEB2_ENST00000262306.7_Silent_p.F62F|TCEB2_ENST00000572954.1_Intron|TCEB2_ENST00000409477.1_Silent_p.F57F	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	62	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						TTTGACTGGTGAAGCCACACT	0.617																																					GBM(141;5215 5962)	ENST00000409477.1																			0				endometrium(2)|prostate(1)	3						c.(169-171)ttC>ttT		transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)							61.0	57.0	59.0					16																	2825510		2198	4300	6498	SO:0001819	synonymous_variant	6923				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr16:2825510G>A	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"""transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"""			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.186C>T	16.37:g.2825510G>A						TCEB2_ENST00000409906.4_Silent_p.F62F|TCEB2_ENST00000262306.7_Silent_p.F62F|TCEB2_ENST00000572954.1_Intron	p.F57F			Q15370	ELOB_HUMAN			2	250	-			62			Ubiquitin-like.		B7WPD3	Silent	SNP	ENST00000409906.4	37	c.171C>T	CCDS45387.1																																																																																				0.617	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	NM_007108		5	31	0	0	0	0.001168	0	5	31				
RAD18	56852	broad.mit.edu	37	3	8990195	8990195	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:8990195C>T	ENST00000264926.2	-	3	309	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	65					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		AAACTCACCACACAGCAAGTT	0.338								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(193-195)Gtg>Atg	Rad6 pathway	RAD18 homolog (S. cerevisiae)							101.0	113.0	109.0					3																	8990195		2203	4297	6500	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8990195C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.193G>A	3.37:g.8990195C>T	ENSP00000264926:p.Val65Met					RAD18_ENST00000495087.1_5'UTR	p.V65M	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	3	309	-			65					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.193G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241616	0.79912	.	.	ENSG00000070950	ENST00000264926;ENST00000413832	T;T	0.17528	2.27;2.27	5.72	5.72	0.89469	Zinc finger, RING/FYVE/PHD-type (1);	0.195636	0.46145	D	0.000310	T	0.21841	0.0526	N	0.20357	0.565	0.43467	D	0.995678	P	0.46621	0.881	P	0.53988	0.739	T	0.00945	-1.1505	10	0.42905	T	0.14	-5.5725	15.3966	0.74798	0.0:1.0:0.0:0.0	.	65	Q9NS91	RAD18_HUMAN	M	65	ENSP00000264926:V65M;ENSP00000412261:V65M	ENSP00000264926:V65M	V	-	1	0	RAD18	8965195	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.083000	0.30815	2.717000	0.92951	0.655000	0.94253	GTG		0.338	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		4	155	0	0	0	0.000602	0	4	155				
VIPAS39	63894	broad.mit.edu	37	14	77904217	77904217	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr14:77904217T>C	ENST00000553888.1	-	12	1280	c.770A>G	c.(769-771)cAt>cGt	p.H257R	VIPAS39_ENST00000343765.2_Missense_Mutation_p.H257R|VIPAS39_ENST00000557658.1_Missense_Mutation_p.H257R|VIPAS39_ENST00000448935.2_Missense_Mutation_p.H208R|VIPAS39_ENST00000556412.1_Missense_Mutation_p.H283R|VIPAS39_ENST00000327028.4_Missense_Mutation_p.H244R	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	257					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CTCTCGATAATGAGATAGCTA	0.348																																						ENST00000553888.1																			0											c.(769-771)cAt>cGt		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							94.0	91.0	92.0					14																	77904217		2202	4300	6502	SO:0001583	missense	63894							g.chr14:77904217T>C	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.770A>G	14.37:g.77904217T>C	ENSP00000452181:p.His257Arg					VIPAS39_ENST00000556412.1_Missense_Mutation_p.H283R|VIPAS39_ENST00000327028.4_Missense_Mutation_p.H244R|VIPAS39_ENST00000343765.2_Missense_Mutation_p.H257R|VIPAS39_ENST00000448935.2_Missense_Mutation_p.H208R|VIPAS39_ENST00000557658.1_Missense_Mutation_p.H257R	p.H257R	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					12	1280	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.770A>G	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137357	0.37728	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.61	5.61	0.85477	.	0.099468	0.64402	D	0.000001	T	0.23611	0.0571	N	0.08118	0	0.40078	D	0.976096	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12578	-1.0542	10	0.11182	T	0.66	-15.9951	15.4512	0.75274	0.0:0.0:0.0:1.0	.	208;257	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	R	257;257;244;257;208;283	ENSP00000339122:H257R;ENSP00000452181:H257R;ENSP00000313098:H244R;ENSP00000452191:H257R;ENSP00000404815:H208R;ENSP00000451857:H283R	ENSP00000313098:H244R	H	-	2	0	VIPAR	76973970	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.376000	0.59556	2.117000	0.64856	0.496000	0.49642	CAT		0.348	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		4	135	0	0	0	0.000602	0	4	135				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	34	1	0	0.004672	0.004672	0.006132	3	34				
TUSC2	11334	broad.mit.edu	37	3	50368106	50368106	+	5'Flank	SNP	C	C	T	rs142957899		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:50368106C>T	ENST00000232496.4	-	0	0				RASSF1_ENST00000359365.4_Missense_Mutation_p.R310Q|RASSF1_ENST00000327761.3_Missense_Mutation_p.R240Q|RASSF1_ENST00000357043.2_Missense_Mutation_p.R314Q|TUSC2_ENST00000462137.1_5'Flank|RASSF1_ENST00000395126.3_Missense_Mutation_p.R159Q	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2						cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCCTCCTCCCGCTGCAGGAT	0.587																																						ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(928-930)cGg>cAg		Ras association (RalGDS/AF-6) domain family member 1		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	103.0	92.0	95.0		476,929,476,719,941	5.5	1.0	3	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	RASSF1	NM_001206957.1,NM_007182.4,NM_170712.2,NM_170713.2,NM_170714.1	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	159/190,310/341,159/190,240/271,314/345	50368106	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50368106C>T	AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"""PDGFA associated protein 2"""	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877		3.37:g.50368106C>T	Exception_encountered					RASSF1_ENST00000395126.3_Missense_Mutation_p.R159Q|RASSF1_ENST00000357043.2_Missense_Mutation_p.R314Q|RASSF1_ENST00000327761.3_Missense_Mutation_p.R240Q	p.R310Q	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	6	1035	-			314			SARAH.		B2R4Y9	Missense_Mutation	SNP	ENST00000232496.4	37	c.929G>A	CCDS2819.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279396	0.95489	0.0	1.16E-4	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.76968	2.71;2.25;-1.06;-1.06	5.49	5.49	0.81192	SARAH (1);	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.977	D;D;P	0.91635	0.951;0.999;0.618	D	0.87265	0.2282	10	0.51188	T	0.08	-30.2568	18.3174	0.90226	0.0:1.0:0.0:0.0	.	310;314;240	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	Q	240;159;314;310	ENSP00000333327:R240Q;ENSP00000378558:R159Q;ENSP00000349547:R314Q;ENSP00000352323:R310Q	ENSP00000333327:R240Q	R	-	2	0	RASSF1	50343110	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.852000	0.55934	2.735000	0.93741	0.563000	0.77884	CGG		0.587	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346399.1	NM_007275		27	90	0	0	0	0.005443	0	27	90				
SPEF2	79925	broad.mit.edu	37	5	35800129	35800129	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr5:35800129G>A	ENST00000356031.3	+	34	5044	c.4890G>A	c.(4888-4890)caG>caA	p.Q1630Q	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.Q1625Q|SPEF2_ENST00000303129.4_Silent_p.Q427Q	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1630					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTACACACAGATGCTGCTTT	0.463																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(4873-4875)caG>caA		sperm flagellar 2							244.0	223.0	230.0					5																	35800129		1988	4167	6155	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35800129G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4890G>A	5.37:g.35800129G>A						SPEF2_ENST00000303129.4_Silent_p.Q427Q|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.Q1630Q	p.Q1625Q			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		34	4875	+	all_lung(31;7.56e-05)		1630					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.4875G>A	CCDS43309.1																																																																																				0.463	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		8	268	0	0	0	0.004482	0	8	268				
PLCB2	5330	broad.mit.edu	37	15	40585837	40585837	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr15:40585837C>T	ENST00000260402.3	-	20	2399	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	PLCB2_ENST00000456256.2_Missense_Mutation_p.R717H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R713H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	717	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGTTCGATAGCGCCTCTTGGG	0.582																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(2149-2151)cGc>cAc		phospholipase C, beta 2							97.0	103.0	101.0					15																	40585837		2008	4189	6197	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40585837C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2150G>A	15.37:g.40585837C>T	ENSP00000260402:p.Arg717His					PLCB2_ENST00000456256.2_Missense_Mutation_p.R717H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R713H	p.R717H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	20	2399	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	717			C2.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2150G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488382	0.84854	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.70986	-0.53;-0.53	4.7	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.399468	0.23782	N	0.044605	T	0.75882	0.3910	L	0.58302	1.8	0.80722	D	1	D;P;D	0.71674	0.998;0.472;0.994	P;B;D	0.62955	0.89;0.036;0.909	T	0.77403	-0.2601	10	0.87932	D	0	.	5.5806	0.17248	0.0:0.7611:0.0:0.2388	.	717;713;717	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	717	ENSP00000260402:R717H;ENSP00000411991:R717H	ENSP00000260402:R717H	R	-	2	0	PLCB2	38373129	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.952000	0.70282	2.442000	0.82660	0.542000	0.68232	CGC		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			4	136	0	0	0	0.009096	0	4	136				
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GATGGGACAGGTGAGTTCCCT	0.483																																						ENST00000526016.1																			0																																																			0							g.chr11:55065705G>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065705G>A								NR_038174.2						0	3	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.483	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			4	25	0	0	0	0.009096	0	4	25				
ABCC6	368	broad.mit.edu	37	16	16256941	16256941	+	Missense_Mutation	SNP	C	C	T	rs63750146		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr16:16256941C>T	ENST00000205557.7	-	24	3444	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1139	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		A -> T (in PXE; dbSNP:rs63750146). {ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GTTCGGAATGCCCGGACCACT	0.582																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43	GRCh37	CM073973	ABCC6	M	rs63750146	c.(3415-3417)Gca>Aca		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							73.0	76.0	75.0					16																	16256941		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16256941C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3415G>A	16.37:g.16256941C>T	ENSP00000205557:p.Ala1139Thr						p.A1139T	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	24	3444	-			1139			ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3415G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264369	0.95399	.	.	ENSG00000091262	ENST00000205557	D	0.91843	-2.92	5.42	5.42	0.78866	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.48767	U	0.000164	D	0.97492	0.9179	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98490	1.0609	10	0.87932	D	0	.	19.2117	0.93758	0.0:1.0:0.0:0.0	rs63750146	1139	O95255	MRP6_HUMAN	T	1139	ENSP00000205557:A1139T	ENSP00000205557:A1139T	A	-	1	0	ABCC6	16164442	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.801000	0.85960	2.520000	0.84964	0.655000	0.94253	GCA		0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			4	156	0	0	0	0.000602	0	4	156				
USP40	55230	broad.mit.edu	37	2	234389870	234389870	+	Missense_Mutation	SNP	C	C	T	rs368386083		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr2:234389870C>T	ENST00000427112.2	-	30	3610	c.3575G>A	c.(3574-3576)cGg>cAg	p.R1192Q	USP40_ENST00000450966.1_Missense_Mutation_p.R1204Q|USP40_ENST00000251722.6_Missense_Mutation_p.R1192Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1192					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCCCAGGGCCCGTTGTTTCTG	0.453																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3574-3576)cGg>cAg		ubiquitin specific peptidase 40		C	GLN/ARG	0,3788		0,0,1894	185.0	176.0	179.0		3611	-3.9	0.0	2		179	1,8215		0,1,4107	no	missense	USP40	NM_018218.2	43	0,1,6001	TT,TC,CC		0.0122,0.0,0.0083	benign	1204/1248	234389870	1,12003	1894	4108	6002	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234389870C>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3575G>A	2.37:g.234389870C>T	ENSP00000387898:p.Arg1192Gln					USP40_ENST00000450966.1_Missense_Mutation_p.R1204Q|USP40_ENST00000427112.2_Missense_Mutation_p.R1192Q	p.R1192Q			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	31	3692	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1192					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.3575G>A	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279279	0.23307	0.0	1.22E-4	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.04454	3.62;3.62;3.62	5.22	-3.86	0.04230	.	1.478860	0.04070	N	0.307878	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42515	-0.9447	10	0.21540	T	0.41	.	0.2608	0.00218	0.3485:0.2333:0.1984:0.2198	.	1204	Q9NVE5-3	.	Q	1204;1192;1192	ENSP00000415434:R1204Q;ENSP00000251722:R1192Q;ENSP00000387898:R1192Q	ENSP00000251722:R1192Q	R	-	2	0	USP40	234054609	0.003000	0.15002	0.000000	0.03702	0.015000	0.08874	0.221000	0.17680	-1.046000	0.03246	-1.061000	0.02294	CGG		0.453	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		3	19	0	0	0	0.009096	0	3	19				
KLHL40	131377	broad.mit.edu	37	3	42727577	42727577	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:42727577T>A	ENST00000287777.4	+	1	567	c.467T>A	c.(466-468)aTc>aAc	p.I156N		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	156	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGCGACTTCATCTGCGCTCAC	0.657																																						ENST00000287777.4																			0											c.(466-468)aTc>aAc		kelch-like family member 40							59.0	59.0	59.0					3																	42727577		2203	4299	6502	SO:0001583	missense	131377							g.chr3:42727577T>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.467T>A	3.37:g.42727577T>A	ENSP00000287777:p.Ile156Asn						p.I156N	NM_152393.2	NP_689606.2					1	567	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.467T>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848943	0.71603	.	.	ENSG00000157119	ENST00000287777	T	0.73047	-0.71	4.56	4.56	0.56223	BTB/Kelch-associated (2);	0.175151	0.51477	D	0.000097	D	0.86682	0.5991	M	0.92738	3.34	0.47905	D	0.999544	D	0.71674	0.998	D	0.70935	0.971	D	0.90089	0.4176	10	0.87932	D	0	.	14.0796	0.64912	0.0:0.0:0.0:1.0	.	156	Q2TBA0	KBTB5_HUMAN	N	156	ENSP00000287777:I156N	ENSP00000287777:I156N	I	+	2	0	KBTBD5	42702581	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.977000	0.56874	1.937000	0.56155	0.533000	0.62120	ATC		0.657	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		9	60	0	0	0	0.006214	0	9	60				
SLIT2	9353	broad.mit.edu	37	4	20259495	20259495	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr4:20259495C>T	ENST00000504154.1	+	3	508	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	SLIT2_ENST00000503823.1_Missense_Mutation_p.L86F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L86F|SLIT2_ENST00000503837.1_Missense_Mutation_p.L86F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	86					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTCAGTCAGCTTATGGAGAA	0.333																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(256-258)Ctt>Ttt		slit homolog 2 (Drosophila)							143.0	157.0	152.0					4																	20259495		2203	4296	6499	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20259495C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.256C>T	4.37:g.20259495C>T	ENSP00000422591:p.Leu86Phe					SLIT2_ENST00000503837.1_Missense_Mutation_p.L86F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L86F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L86F	p.L86F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			3	508	+			86					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.256C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042557	0.75732	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-0.93	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	D	0.90920	0.7146	H	0.94222	3.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92232	0.5793	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	86;86	O94813-3;O94813	.;SLIT2_HUMAN	F	86;86;86;86;86;47	ENSP00000427548:L86F;ENSP00000422591:L86F;ENSP00000273739:L86F;ENSP00000422261:L86F;ENSP00000426356:L47F	ENSP00000273739:L86F	L	+	1	0	SLIT2	19868593	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.144000	0.58057	2.882000	0.98803	0.655000	0.94253	CTT		0.333	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			5	189	0	0	0	0.000602	0	5	189				
MCF2L	23263	broad.mit.edu	37	13	113742643	113742643	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr13:113742643G>A	ENST00000375608.3	+	25	2839	c.2781G>A	c.(2779-2781)gcG>gcA	p.A927A	MCF2L_ENST00000375604.2_Silent_p.A954A|MCF2L_ENST00000442652.2_Silent_p.A927A|MCF2L_ENST00000375597.4_Silent_p.A895A|MCF2L_ENST00000434480.2_Silent_p.A903A|MCF2L_ENST00000423482.2_Silent_p.A895A|MCF2L_ENST00000535094.2_Silent_p.A897A|MCF2L_ENST00000421756.1_Silent_p.A901A|MCF2L_ENST00000375601.3_Silent_p.A901A|MCF2L_ENST00000397030.1_Silent_p.A930A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	927	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGAAACAGGCGCCAACTCCTG	0.522																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2788-2790)gcG>gcA		MCF.2 cell line derived transforming sequence-like							99.0	109.0	106.0					13																	113742643		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113742643G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2781G>A	13.37:g.113742643G>A						MCF2L_ENST00000375597.4_Silent_p.A895A|MCF2L_ENST00000535094.2_Silent_p.A897A|MCF2L_ENST00000375601.3_Silent_p.A901A|MCF2L_ENST00000434480.2_Silent_p.A903A|MCF2L_ENST00000375604.2_Silent_p.A954A|MCF2L_ENST00000442652.2_Silent_p.A927A|MCF2L_ENST00000423482.2_Silent_p.A895A|MCF2L_ENST00000421756.1_Silent_p.A901A|MCF2L_ENST00000375608.3_Silent_p.A927A	p.A930A			O15068	MCF2L_HUMAN			24	2827	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	927			PH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.2790G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.037|0.037	-1.302824|-1.302824	0.01353|0.01353	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017;ENST00000453297;ENST00000439475|ENST00000413354;ENST00000261963	T;T;T|.	0.38560|.	1.13;1.13;1.13|.	4.29|4.29	-6.9|-6.9	0.01655|0.01655	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.36496|0.36496	0.0969|0.0969	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41998|0.41998	-0.9477|-0.9477	7|4	0.87932|.	D|.	0|.	.|.	3.0267|3.0267	0.06094|0.06094	0.4204:0.1144:0.3539:0.1113|0.4204:0.1144:0.3539:0.1113	.|.	.|.	.|.	.|.	T|H	558;52;3|127;68	ENSP00000380212:A558T;ENSP00000392953:A52T;ENSP00000411315:A3T|.	ENSP00000380212:A558T|.	A|R	+|+	1|2	0|0	MCF2L|MCF2L	112790644|112790644	0.084000|0.084000	0.21492|0.21492	0.249000|0.249000	0.24280|0.24280	0.031000|0.031000	0.12232|0.12232	-0.468000|-0.468000	0.06656|0.06656	-0.995000|-0.995000	0.03459|0.03459	-1.166000|-1.166000	0.01754|0.01754	GCC|CGC		0.522	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			5	187	0	0	0	0.001168	0	5	187				
RFPL1	5988	broad.mit.edu	37	22	29835022	29835022	+	Missense_Mutation	SNP	G	G	C	rs369425454		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr22:29835022G>C	ENST00000354373.2	+	1	451	c.242G>C	c.(241-243)tGt>tCt	p.C81S	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	81							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TGCTGTTGCTGTTCCATGGTC	0.517																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(241-243)tGt>tCt		ret finger protein-like 1							147.0	136.0	139.0					22																	29835022		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29835022G>C	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.242G>C	22.37:g.29835022G>C	ENSP00000346342:p.Cys81Ser					RFPL1S_ENST00000461286.2_RNA	p.C81S	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	451	+			81					Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.242G>C	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	10.66	1.413858	0.25465	.	.	ENSG00000128250	ENST00000354373	T	0.54479	0.57	1.23	1.23	0.21249	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);RDM domain, Ret finger protein-like (1);	.	.	.	.	T	0.55986	0.1955	M	0.62723	1.935	0.09310	N	1	B	0.22276	0.067	B	0.41813	0.367	T	0.57974	-0.7718	9	0.45353	T	0.12	.	6.348	0.21361	0.0:0.0:1.0:0.0	.	81	O75677	RFPL1_HUMAN	S	81	ENSP00000346342:C81S	ENSP00000346342:C81S	C	+	2	0	RFPL1	28165022	0.829000	0.29322	0.002000	0.10522	0.004000	0.04260	3.427000	0.52785	0.579000	0.29504	0.418000	0.28097	TGT		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		42	151	0	0	0	0.008740	0	42	151				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	72	0	0	0	0.003954	0	26	72				
MYT1L	23040	broad.mit.edu	37	2	1907015	1907015	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr2:1907015G>T	ENST00000399161.2	-	14	2616	c.1869C>A	c.(1867-1869)aaC>aaA	p.N623K	MYT1L_ENST00000428368.2_Missense_Mutation_p.N621K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	623					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGGGACATTGTTTCTGTAGC	0.458																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1867-1869)aaC>aaA		myelin transcription factor 1-like							82.0	76.0	78.0					2																	1907015		1985	4165	6150	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1907015G>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1869C>A	2.37:g.1907015G>T	ENSP00000382114:p.Asn623Lys					MYT1L_ENST00000428368.2_Missense_Mutation_p.N621K	p.N623K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2616	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	623					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1869C>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.962432	0.74016	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.44083	0.93;0.93	5.51	4.64	0.57946	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.68317	2.08	0.80722	D	1	D;P	0.54047	0.964;0.944	P;B	0.48334	0.574;0.359	T	0.51442	-0.8705	10	0.62326	D	0.03	-61.7498	10.556	0.45118	0.1473:0.0:0.8527:0.0	.	623;621	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	K	623;569;621	ENSP00000382114:N623K;ENSP00000396103:N621K	ENSP00000295067:N569K	N	-	3	2	MYT1L	1886022	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.236000	0.58675	1.343000	0.45638	0.561000	0.74099	AAC		0.458	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		6	43	1	0	5.4927e-09	0.004482	7.68978e-09	6	43				
ZNF616	90317	broad.mit.edu	37	19	52618688	52618688	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:52618688A>G	ENST00000600228.1	-	4	1990	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTGCATTTGTAAGGTTTCTCT	0.418																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1729-1731)Tac>Cac		zinc finger protein 616							110.0	95.0	100.0					19																	52618688		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618688A>G	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1729T>C	19.37:g.52618688A>G	ENSP00000471000:p.Tyr577His					ZNF616_ENST00000330123.5_3'UTR	p.Y577H	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1990	-			577					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1729T>C	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911160	0.52439	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	0.544	0.17185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38931	0.1059	N	0.21324	0.655	0.21697	N	0.999589	D	0.76494	0.999	D	0.72338	0.977	T	0.18935	-1.0321	8	0.59425	D	0.04	.	5.4645	0.16635	0.836:0.0:0.164:0.0	.	577	Q08AN1	ZN616_HUMAN	H	577	.	ENSP00000328722:Y577H	Y	-	1	0	ZNF616	57310500	0.001000	0.12720	0.021000	0.16686	0.333000	0.28666	1.564000	0.36375	-0.052000	0.13311	0.254000	0.18369	TAC		0.418	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		3	77	0	0	0	0.004672	0	3	77				
SAA2	6289	broad.mit.edu	37	11	18266989	18266989	+	Missense_Mutation	SNP	T	T	C	rs202101890	byFrequency	TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr11:18266989T>C	ENST00000526900.1	-	4	487	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000530400.1_Intron|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000414546.2_Intron			P0DJI9	SAA2_HUMAN	serum amyloid A2	102					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)		p.K102E(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGCCCCATTTATTGGCAGCC	0.572																																						ENST00000526900.1																			2	Substitution - Missense(2)	p.K102E(2)	prostate(1)|central_nervous_system(1)	central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(304-306)Aaa>Gaa		serum amyloid A2							93.0	83.0	86.0					11																	18266989		2199	4293	6492	SO:0001583	missense	6289							g.chr11:18266989T>C	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.304A>G	11.37:g.18266989T>C	ENSP00000436126:p.Lys102Glu					SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron	p.K102E							4	487	-								G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	c.304A>G	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	T	3.365	-0.129679	0.06753	.	.	ENSG00000134339	ENST00000256733;ENST00000529528;ENST00000526900	T;T;T	0.08720	3.06;3.06;3.06	5.01	-10.0	0.00425	.	1.240460	0.05687	N	0.591555	T	0.02193	0.0068	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41840	-0.9486	7	0.02654	T	1	.	8.2109	0.31483	0.0:0.2224:0.3585:0.4191	.	.	.	.	E	102	ENSP00000256733:K102E;ENSP00000437162:K102E;ENSP00000436126:K102E	ENSP00000256733:K102E	K	-	1	0	SAA2	18223565	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-3.966000	0.00324	-1.715000	0.01389	-0.147000	0.13772	AAA		0.572	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		3	54	0	0	0	0.004672	0	3	54				
C3	718	broad.mit.edu	37	19	6682003	6682003	+	Silent	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:6682003C>T	ENST00000245907.6	-	35	4391	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1433	Properdin-binding.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTTTGTCCAGCTCATACTTGG	0.562																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4297-4299)gaG>gaA		complement component 3							181.0	164.0	170.0					19																	6682003		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6682003C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4299G>A	19.37:g.6682003C>T							p.E1433E	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	35	4391	-			1433			Properdin-binding.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4299G>A	CCDS32883.1																																																																																				0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		57	169	0	0	0	0.014410	0	57	169				
WDR73	84942	broad.mit.edu	37	15	85186877	85186894	+	In_Frame_Del	DEL	CTTGGCTCCGTGTTCCAT	CTTGGCTCCGTGTTCCAT	-	rs370347033|rs373448317|rs11267906|rs372798651|rs199676984	byFrequency	TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT	ENST00000434634.2	-	8	1004_1021	c.944_961delATGGAACACGGAGCCAAG	c.(943-963)gatggaacacggagccaagta>gta	p.DGTRSQ315del	WDR73_ENST00000398528.3_5'UTR|SCAND2P_ENST00000348993.5_RNA	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	315										cervix(1)|large_intestine(1)|lung(1)	3						AGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCG	0.509														794	0.158546	0.1399	0.1383	5008	,	,		21272	0.0843		0.2038	False		,,,				2504	0.228					ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(943-963)gta>g		WD repeat domain 73				344,3500		48,248,1626						-0.4	0.0		dbSNP_120	111	1220,6750		177,866,2942	no	coding	WDR73	NM_032856.2		225,1114,4568	A1A1,A1R,RR		15.3074,8.949,13.2385				1564,10250				SO:0001651	inframe_deletion	84942							g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.944_961delATGGAACACGGAGCCAAG	15.37:g.85186877_85186894delCTTGGCTCCGTGTTCCAT	ENSP00000387982:p.Asp315_Gln320del					WDR73_ENST00000398528.3_5'UTR	p.DGTRSQV315del	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			8	1004_1021	-			315					Q96JZ1|Q9P0B7	In_Frame_Del	DEL	ENST00000434634.2	37	c.944_961delATGGAACACGGAGCCAAG	CCDS45339.1																																																																																				0.509	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		10	39						10	39	---	---	---	---
