#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
FEM1A	55527	broad.mit.edu	37	19	4793717	4793717	+	Silent	SNP	C	C	A			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr19:4793717C>A	ENST00000269856.3	+	1	1990	c.1851C>A	c.(1849-1851)gcC>gcA	p.A617A	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	617					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.A617A(4)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGAAGACGGCCTACGAGCTGC	0.607																																						ENST00000269856.3																			4	Substitution - coding silent(4)	p.A617A(4)	central_nervous_system(2)|lung(1)|endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1849-1851)gcC>gcA		fem-1 homolog a (C. elegans)																																				SO:0001819	synonymous_variant	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793717C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1851C>A	19.37:g.4793717C>A						AC005523.2_ENST00000601192.1_RNA	p.A617A	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1990	+		Hepatocellular(1079;0.137)	617					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Silent	SNP	ENST00000269856.3	37	c.1851C>A	CCDS12135.1																																																																																				0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			5	43	1	0	1	1	1	5	43				
NTSR2	23620	broad.mit.edu	37	2	11809697	11809697	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr2:11809697G>A	ENST00000306928.5	-	1	593	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	187					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCGGGCTCCGGCTCCCCGTCC	0.711																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(559-561)Ccg>Tcg		neurotensin receptor 2	Levocabastine(DB01106)						9.0	10.0	10.0					2																	11809697		1785	3549	5334	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11809697G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.559C>T	2.37:g.11809697G>A	ENSP00000303686:p.Pro187Ser						p.P187S	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	593	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		187					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.559C>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	5.733	0.319636	0.10845	.	.	ENSG00000169006	ENST00000306928	T	0.37752	1.18	3.24	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.245759	0.21264	N	0.077438	T	0.22513	0.0543	L	0.39566	1.225	0.09310	N	1	B	0.18166	0.026	B	0.25614	0.062	T	0.23583	-1.0184	10	0.07990	T	0.79	-21.6494	4.7668	0.13135	0.125:0.2228:0.6521:0.0	.	187	O95665	NTR2_HUMAN	S	187	ENSP00000303686:P187S	ENSP00000303686:P187S	P	-	1	0	NTSR2	11727148	0.030000	0.19436	0.012000	0.15200	0.136000	0.21042	1.593000	0.36686	0.952000	0.37798	0.555000	0.69702	CCG		0.711	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			13	22	0	0	0	1	0	13	22				
ARFGAP1	55738	broad.mit.edu	37	20	61919073	61919073	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr20:61919073G>A	ENST00000370283.4	+	13	1209	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E365K|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E291K|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E312K|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E244K|ARFGAP1_ENST00000370275.4_3'UTR	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	357					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CACCTCCACCGAGAGGAGGAG	0.662																																						ENST00000370283.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(1069-1071)Gag>Aag		ADP-ribosylation factor GTPase activating protein 1							26.0	27.0	27.0					20																	61919073		2191	4296	6487	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61919073G>A	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.1069G>A	20.37:g.61919073G>A	ENSP00000359306:p.Glu357Lys					ARFGAP1_ENST00000370275.4_3'UTR|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E244K|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E291K|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E365K|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E312K	p.E357K	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN			13	1209	+	all_cancers(38;1.59e-09)		357					B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.1069G>A	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674871	0.67928	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000523460;ENST00000519604;ENST00000519273;ENST00000353546	T;T;T;T;T	0.46819	1.5;0.88;0.88;0.86;1.51	4.84	4.84	0.62591	.	0.282570	0.34906	N	0.003587	T	0.40522	0.1120	L	0.51422	1.61	0.48087	D	0.999584	P;P;P;D	0.55172	0.948;0.832;0.898;0.97	B;B;B;B	0.39503	0.301;0.234;0.116;0.294	T	0.36866	-0.9730	10	0.10902	T	0.67	-2.535	18.309	0.90192	0.0:0.0:1.0:0.0	.	244;312;357;365	B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	K	357;291;113;312;244;365	ENSP00000359306:E357K;ENSP00000449800:E291K;ENSP00000430500:E312K;ENSP00000443716:E244K;ENSP00000314615:E365K	ENSP00000314615:E365K	E	+	1	0	ARFGAP1	61389518	1.000000	0.71417	0.007000	0.13788	0.196000	0.23810	4.694000	0.61760	2.378000	0.81104	0.462000	0.41574	GAG		0.662	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		3	20	0	0	0	1	0	3	20				
OFD1	8481	broad.mit.edu	37	X	13778509	13778509	+	Missense_Mutation	SNP	C	C	T	rs185831378		TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chrX:13778509C>T	ENST00000340096.6	+	16	2257	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	OFD1_ENST00000380550.3_Missense_Mutation_p.R604C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Missense_Mutation_p.R504C	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	644	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAGGCCGAACGCTTGGAAAA	0.488													C|||	2	0.000529801	0.0	0.0	3775	,	,		13976	0.002		0.0	False		,,,				2504	0.0					ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1510-1512)Cgc>Tgc		oral-facial-digital syndrome 1							88.0	78.0	81.0					X																	13778509		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778509C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1930C>T	X.37:g.13778509C>T	ENSP00000344314:p.Arg644Cys					OFD1_ENST00000340096.6_Missense_Mutation_p.R644C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R604C	p.R504C			O75665	OFD1_HUMAN			17	2382	+			644					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1510C>T	CCDS14157.1	2	0.0012055455093429777	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	.	6.507	0.461756	0.12342	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96041	-3.89;-3.89;-1.76	5.67	-1.53	0.08611	.	0.862572	0.10567	N	0.659534	D	0.89876	0.6842	L	0.43701	1.375	0.09310	N	1	B;B;B;B;B	0.21381	0.055;0.055;0.017;0.017;0.055	B;B;B;B;B	0.14578	0.011;0.011;0.011;0.003;0.011	T	0.78573	-0.2152	10	0.37606	T	0.19	-0.0645	2.928	0.05791	0.1128:0.3314:0.1094:0.4465	.	644;604;312;504;644	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	C	604;644;504	ENSP00000369923:R604C;ENSP00000344314:R644C;ENSP00000369941:R504C	ENSP00000344314:R644C	R	+	1	0	OFD1	13688430	0.002000	0.14202	0.002000	0.10522	0.402000	0.30811	0.409000	0.21082	-0.272000	0.09259	-1.375000	0.01183	CGC		0.488	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		4	62	0	0	0	1	0	4	62				
CYP4F11	57834	broad.mit.edu	37	19	16024590	16024590	+	Silent	SNP	C	C	T			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr19:16024590C>T	ENST00000402119.4	-	12	1953	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	CYP4F11_ENST00000248041.8_Silent_p.E509E|CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000591841.1_Silent_p.E184E	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAGTCCACCCTCTGCGCGCA	0.602																																						ENST00000402119.3																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1525-1527)gaG>gaA		cytochrome P450, family 4, subfamily F, polypeptide 11							60.0	55.0	57.0					19																	16024590		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024590C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1527G>A	19.37:g.16024590C>T						CYP4F11_ENST00000326742.7_3'UTR|CYP4F11_ENST00000248041.7_Silent_p.E509E	p.E509E	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN			12	1953	-			509						Silent	SNP	ENST00000402119.4	37	c.1527G>A	CCDS12337.1																																																																																				0.602	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		4	38	0	0	0	1	0	4	38				
PRRT3	285368	broad.mit.edu	37	3	9991405	9991405	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr3:9991405T>G	ENST00000412055.1	-	2	524	c.395A>C	c.(394-396)gAc>gCc	p.D132A	PRRT3_ENST00000411976.2_Missense_Mutation_p.D132A|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	132						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTCTTGTGAGTCCAGAGGTCC	0.572																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(394-396)gAc>gCc		proline-rich transmembrane protein 3							70.0	75.0	74.0					3																	9991405		2027	4198	6225	SO:0001583	missense	285368					integral to membrane		g.chr3:9991405T>G	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.395A>C	3.37:g.9991405T>G	ENSP00000392511:p.Asp132Ala					PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.D132A	p.D132A	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	524	-			132					Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.395A>C	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845620	0.32606	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.25085	2.15;1.82	4.28	1.88	0.25563	.	0.425545	0.20014	N	0.101055	T	0.20941	0.0504	L	0.34521	1.04	0.09310	N	1	P;P	0.49961	0.93;0.562	P;B	0.47827	0.558;0.201	T	0.07195	-1.0785	9	.	.	.	-9.3952	5.9792	0.19397	0.0:0.2223:0.0:0.7777	.	132;132	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	A	132	ENSP00000392511:D132A;ENSP00000404512:D132A	.	D	-	2	0	PRRT3	9966405	0.004000	0.15560	0.009000	0.14445	0.268000	0.26511	0.716000	0.25836	0.279000	0.22186	0.528000	0.53228	GAC		0.572	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		6	91	0	0	0	1	0	6	91				
CORO1B	57175	broad.mit.edu	37	11	67209178	67209178	+	Intron	SNP	A	A	G			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr11:67209178A>G	ENST00000341356.5	-	4	565				CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000545016.1_Silent_p.A160A|CORO1B_ENST00000393893.1_Intron	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGGGGGGGGGAGCACAAAACG	0.652																																						ENST00000545016.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(478-480)gcT>gcC		coronin, actin binding protein, 1B							11.0	12.0	12.0					11																	67209178		2175	4274	6449	SO:0001627	intron_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67209178A>G	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.454+25T>C	11.37:g.67209178A>G						CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron	p.A160A			Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		4	565	-			0					B2RD45	Silent	SNP	ENST00000341356.5	37	c.480T>C	CCDS8164.1																																																																																				0.652	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		5	20	0	0	0	1	0	5	20				
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607																																						ENST00000269856.3																			1	Substitution - Missense(1)	p.L620M(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1858-1860)Ctg>Atg		fem-1 homolog a (C. elegans)							48.0	43.0	45.0					19																	4793724		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793724C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1858C>A	19.37:g.4793724C>A	ENSP00000269856:p.Leu620Met					AC005523.2_ENST00000601192.1_RNA	p.L620M	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1997	+		Hepatocellular(1079;0.137)	620					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1858C>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794270	0.50102	.	.	ENSG00000141965	ENST00000269856	T	0.73152	-0.72	4.92	3.89	0.44902	Ankyrin repeat-containing domain (2);	0.000000	0.56097	U	0.000025	T	0.77157	0.4089	L	0.55103	1.725	0.53005	D	0.999962	D	0.71674	0.998	D	0.69654	0.965	T	0.75196	-0.3403	10	0.41790	T	0.15	-11.1696	9.4444	0.38688	0.0:0.8375:0.0:0.1625	.	620	Q9BSK4	FEM1A_HUMAN	M	620	ENSP00000269856:L620M	ENSP00000269856:L620M	L	+	1	2	FEM1A	4744724	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.093000	0.41710	1.061000	0.40601	0.491000	0.48974	CTG		0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			5	46	1	0	1	1	1	5	46				
RASA1	5921	broad.mit.edu	37	5	86676346	86676346	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr5:86676346G>C	ENST00000274376.6	+	20	3188	c.2624G>C	c.(2623-2625)gGg>gCg	p.G875A	RASA1_ENST00000506290.1_Missense_Mutation_p.G709A|RASA1_ENST00000512763.1_Missense_Mutation_p.G708A|RASA1_ENST00000456692.2_Missense_Mutation_p.G698A	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	875	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TATATTTATGGGTGTTTACAG	0.363																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(2092-2094)gGg>gCg		RAS p21 protein activator (GTPase activating protein) 1							154.0	152.0	153.0					5																	86676346		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86676346G>C		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2624G>C	5.37:g.86676346G>C	ENSP00000274376:p.Gly875Ala					RASA1_ENST00000506290.1_Missense_Mutation_p.G709A|RASA1_ENST00000512763.1_Missense_Mutation_p.G708A|RASA1_ENST00000274376.6_Missense_Mutation_p.G875A	p.G698A	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	20	2208	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	875					B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2093G>C	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045203	0.93685	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.53	5.53	0.82687	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	L	0.29908	0.895	0.80722	D	1	P;D;D;P;D	0.60575	0.899;0.988;0.978;0.943;0.976	P;P;P;P;P	0.59595	0.48;0.86;0.686;0.529;0.66	T	0.78107	-0.2333	10	0.33141	T	0.24	.	19.8241	0.96610	0.0:0.0:1.0:0.0	.	709;708;709;698;875	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	A	875;698;708;709	ENSP00000274376:G875A;ENSP00000411221:G698A;ENSP00000422008:G708A;ENSP00000420905:G709A	ENSP00000274376:G875A	G	+	2	0	RASA1	86712102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.587000	0.98229	2.758000	0.94735	0.655000	0.94253	GGG		0.363	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		21	49	0	0	0	1	0	21	49				
UFL1	23376	broad.mit.edu	37	6	96969746	96969746	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr6:96969746C>A	ENST00000369278.4	+	0	63				UFL1_ENST00000461673.1_3'UTR|UFL1-AS1_ENST00000430796.1_RNA	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1						negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CGAGTCAGGCCGTGATGGCGG	0.687																																						ENST00000369278.4																			0													UFM1-specific ligase 1							21.0	21.0	21.0					6																	96969746		2202	4299	6501			23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96969746C>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238		6.37:g.96969746C>A						UFL1_ENST00000461673.1_3'UTR		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			0	63	+								A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Translation_Start_Site	SNP	ENST00000369278.4	37		CCDS5034.1																																																																																				0.687	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		9	16	1	0	9.70103e-10	1	1.19058e-09	9	16				
OGFOD2	79676	broad.mit.edu	37	12	123463748	123463748	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr12:123463748T>G	ENST00000228922.7	+	7	940	c.908T>G	c.(907-909)cTt>cGt	p.L303R	ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.L243R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000315580.5_5'Flank|ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000426960.2_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000439686.2_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L139R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000453766.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	303	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.						iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CGTTGGAACCTTGTCGTCTGG	0.672																																						ENST00000397389.2																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(727-729)cTt>cGt		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						40.0	47.0	45.0					12																	123463748		2150	4240	6390	SO:0001583	missense	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463748T>G	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.908T>G	12.37:g.123463748T>G	ENSP00000228922:p.Leu303Arg					OGFOD2_ENST00000545317.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L139R|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000228922.7_Missense_Mutation_p.L303R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L139R|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L139R|ABCB9_ENST00000542678.1_5'UTR	p.L243R	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	8	1467	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		303			Fe2OG dioxygenase.		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.728T>G		.	.	.	.	.	.	.	.	.	.	T	18.89	3.719043	0.68844	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.92249	-3.0;0.59	5.14	5.14	0.70334	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97305	0.9933	10	0.87932	D	0	-19.7674	14.9552	0.71107	0.0:0.0:0.0:1.0	.	303;243	Q6N063;Q6N063-2	OGFD2_HUMAN;.	R	243;139;139;139;139;139;139;139;303;139	ENSP00000380544:L243R;ENSP00000228922:L303R	ENSP00000228922:L303R	L	+	2	0	OGFOD2	122029701	1.000000	0.71417	0.878000	0.34440	0.319000	0.28217	8.040000	0.89188	1.938000	0.56188	0.379000	0.24179	CTT		0.672	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		25	76	0	0	0	1	0	25	76				
AIFM1	9131	broad.mit.edu	37	X	129267407	129267407	+	Silent	SNP	G	G	A	rs143792929	byFrequency	TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chrX:129267407G>A	ENST00000287295.3	-	13	1559	c.1329C>T	c.(1327-1329)taC>taT	p.Y443Y	AIFM1_ENST00000346424.2_Silent_p.Y156Y|AIFM1_ENST00000319908.3_Silent_p.Y439Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Silent_p.Y104Y|AIFM1_ENST00000440263.1_Silent_p.Y91Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	443	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	ACTTTATATCGTAGAAGCATG	0.408																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1327-1329)taC>taT		apoptosis-inducing factor, mitochondrion-associated, 1		A	,,,,	1,3834		0,1,0,1631,571	288.0	275.0	279.0		273,,1329,1317,468	-1.4	1.0	X	dbSNP_134	279	18,6710		0,12,6,2416,1866	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous	AIFM1	NM_001130846.2,NM_001130847.3,NM_004208.3,NM_145812.2,NM_145813.2	,,,,	0,13,6,4047,2437	AA,AG,A,GG,G		0.2675,0.0261,0.1799	,,,,	91/262,,443/614,439/610,156/327	129267407	19,10544	2203	4300	6503	SO:0001819	synonymous_variant	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129267407G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1329C>T	X.37:g.129267407G>A						AIFM1_ENST00000460436.2_Silent_p.Y104Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Silent_p.Y91Y|AIFM1_ENST00000319908.3_Silent_p.Y439Y|AIFM1_ENST00000346424.2_Silent_p.Y156Y	p.Y443Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			13	1559	-			443			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	c.1329C>T	CCDS14618.1																																																																																				0.408	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			10	251	0	0	0	1	0	10	251				
FRRS1	391059	broad.mit.edu	37	1	100194098	100194099	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr1:100194098_100194099delAT	ENST00000414213.1	-	9	1557_1558	c.956_957delAT	c.(955-957)gatfs	p.D319fs	FRRS1_ENST00000287474.5_Frame_Shift_Del_p.D319fs			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	319	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TTGTGTTTAGATCAAATCTATT	0.391																																						ENST00000414213.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(955-957)gfs		ferric-chelate reductase 1																																				SO:0001589	frameshift_variant	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100194098_100194099delAT	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.956_957delAT	1.37:g.100194098_100194099delAT	ENSP00000393884:p.Asp319fs					FRRS1_ENST00000287474.5_Frame_Shift_Del_p.D319fs	p.D319fs			Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	9	1557_1558	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	319			DOMON.		A6NLN7	Frame_Shift_Del	DEL	ENST00000414213.1	37	c.956_957delAT																																																																																					0.391	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		9	134						9	134	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			4	5						4	5	---	---	---	---
CYTIP	9595	broad.mit.edu	37	2	158275098	158275098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr2:158275098delT	ENST00000264192.3	-	7	671	c.550delA	c.(550-552)actfs	p.T184fs	CYTIP_ENST00000540637.1_Frame_Shift_Del_p.T78fs	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	184	Interaction with CYTH1.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGTTTCAAAGTTTGCTGTGAG	0.328																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(550-552)ctfs		cytohesin 1 interacting protein							119.0	114.0	116.0					2																	158275098		2203	4300	6503	SO:0001589	frameshift_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158275098delT	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.550delA	2.37:g.158275098delT	ENSP00000264192:p.Thr184fs					CYTIP_ENST00000540637.1_Frame_Shift_Del_p.T78fs	p.T184fs	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			7	671	-			184			Interaction with CYTH1.		B4DWH9|Q15630|Q8NE32	Frame_Shift_Del	DEL	ENST00000264192.3	37	c.550delA	CCDS2204.1																																																																																				0.328	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		7	146						7	146	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140477827	140477841	+	In_Frame_Del	DEL	TGCTGAGGTGTAGGT	TGCTGAGGTGTAGGT	-	rs375520366		TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr7:140477827_140477841delTGCTGAGGTGTAGGT	ENST00000288602.6	-	12	1527_1541	c.1467_1481delACCTACACCTCAGCA	c.(1465-1482)gcacctacacctcagcag>gcg	p.PTPQQ490del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.L485_P490>Y(2)|p.N486_P490del(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)	GGCTTGTAACTGCTGAGGTGTAGGTGCTGTCACAT	0.353		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		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)	3	Complex - deletion inframe(2)|Deletion - In frame(1)	p.L485_P490>Y(2)|p.N486_P490del(1)	lung(2)|ovary(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.(1465-1482)gcg>gc		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)																																			SO:0001651	inframe_deletion	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.chr7:140477827_140477841delTGCTGAGGTGTAGGT	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.1467_1481delACCTACACCTCAGCA	7.37:g.140477827_140477841delTGCTGAGGTGTAGGT	ENSP00000288602:p.Pro490_Gln494del						p.APTPQQ489del	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			12	1527_1541	-	Melanoma(164;0.00956)		489			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	In_Frame_Del	DEL	ENST00000288602.6	37	c.1467_1481delACCTACACCTCAGCA	CCDS5863.1																																																																																				0.353	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	48						8	48	---	---	---	---
ZYX	7791	broad.mit.edu	37	7	143080154	143080155	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr7:143080154_143080155insC	ENST00000322764.5	+	5	1107_1108	c.762_763insC	c.(763-765)cccfs	p.P255fs	ZYX_ENST00000392910.2_Frame_Shift_Ins_p.P98fs|ZYX_ENST00000449423.2_Frame_Shift_Ins_p.P168fs|ZYX_ENST00000477373.1_3'UTR|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	255					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGCCCCGAGGGCCCCCAGCCTC	0.599																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(760-765)ggccccfs		zyxin																																				SO:0001589	frameshift_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143080154_143080155insC	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.767dupC	7.37:g.143080159_143080159dupC	ENSP00000324422:p.Pro255fs					ZYX_ENST00000449423.2_Frame_Shift_Ins_p.GP167fs|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000392910.2_Frame_Shift_Ins_p.GP97fs	p.GP254fs	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			5	1107_1108	+	Melanoma(164;0.205)		254					A4D2G6|Q6I9S4	Frame_Shift_Ins	INS	ENST00000322764.5	37	c.762_763insC	CCDS5883.1																																																																																				0.599	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		9	491						9	491	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	lincRNA	DEL	A	A	-	rs368616794|rs199855162|rs56683069		TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373																																						ENST00000445604.2																			0																																																			0							g.chr9:66545695delA																													9.37:g.66545695delA														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			5	4						5	4	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78212706	78212711	+	lincRNA	DEL	AGGGCT	AGGGCT	-			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr15:78212706_78212711delAGGGCT	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							gccccttaaaagggctagggctaggc	0.51																																						ENST00000565869.1																			0																																																			0							g.chr15:78212706_78212711delAGGGCT																													15.37:g.78212712_78212717delAGGGCT						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	DEL	ENST00000565869.1	37																																																																																						0.510	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			2	4						2	4	---	---	---	---
LOC101926911	101926911	broad.mit.edu	37	15	91577398	91577398	+	RNA	DEL	G	G	-	rs71463787|rs547659371|rs398043561	byFrequency	TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr15:91577398delG	ENST00000557804.1	+	0	465																											TCCTGCTGCCGGTTCAGGTGA	0.627													GG|GG|G|deletion	263	0.052516	0.003	0.0288	5008	,	,		17580	0.003		0.0487	False		,,,				2504	0.1912					ENST00000557804.1																			0																																																			0							g.chr15:91577398delG																													15.37:g.91577398delG														0	465	+									RNA	DEL	ENST00000557804.1	37																																																																																						0.627	AC068831.10-004	KNOWN	basic	antisense	antisense	OTTHUMT00000418639.1			3	3						3	3	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183626	+	RNA	DEL	TT	TT	-	rs537660277|rs5818322|rs10617579	byFrequency	TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr16:81183625_81183626delTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACtttttttttttt	0.465														3562	0.711262	0.6044	0.7637	5008	,	,		18089	0.625		0.831	False		,,,				2504	0.7843					ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183625_81183626delTT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183635_81183636delTT						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	2609	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.465	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			3	4						3	4	---	---	---	---
CTC-513N18.6	0	broad.mit.edu	37	19	20663030	20663030	+	lincRNA	DEL	T	T	-			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr19:20663030delT	ENST00000598131.1	+	0	256																											gaggagcttcttttgtccagc	0.532																																						ENST00000598131.1																			0																																																			0							g.chr19:20663030delT																													19.37:g.20663030delT														0	256	+									RNA	DEL	ENST00000598131.1	37																																																																																						0.532	CTC-513N18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463072.1			2	4						2	4	---	---	---	---
