#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
ZFYVE26	23503	broad.mit.edu	37	14	68248225	68248225	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr14:68248225A>G	ENST00000347230.4	-	22	4532	c.4394T>C	c.(4393-4395)cTg>cCg	p.L1465P	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L1465P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1465					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACGGGAAACAGGTATTGCCA	0.498																																						uc001xka.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(4393-4395)cTg>cCg		Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.							95.0	92.0	93.0					14																	68248225		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68248225A>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4394T>C	14.37:g.68248225A>G	ENSP00000251119:p.Leu1465Pro					ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.L1465P	p.L1465P	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	21	4533	-			1465					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.4394T>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540998	0.85917	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.37752	1.35;1.18	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.60881	0.2303	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.64428	-0.6410	10	0.87932	D	0	-9.2215	16.2025	0.82095	1.0:0.0:0.0:0.0	.	1465;1465	G3V2D8;Q68DK2	.;ZFY26_HUMAN	P	1465;1444;1465	ENSP00000251119:L1465P;ENSP00000450603:L1465P	ENSP00000251119:L1465P	L	-	2	0	ZFYVE26	67317978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.679000	0.91220	2.231000	0.72958	0.459000	0.35465	CTG		0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		3	157	0	0	0	1	0	3	157				
PHEX	5251	broad.mit.edu	37	X	22112115	22112115	+	Silent	SNP	T	T	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chrX:22112115T>G	ENST00000379374.4	+	7	1312	c.747T>G	c.(745-747)ctT>ctG	p.L249L	PHEX_ENST00000535894.1_Silent_p.L152L|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Silent_p.L249L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	249					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGGATGCCCTTTACAAGTTCA	0.413																																						uc004dah.3																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(745-747)ctT>ctG		Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.							174.0	159.0	164.0					X																	22112115		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22112115T>G	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.747T>G	X.37:g.22112115T>G						PHEX_uc011mjr.2_Silent_p.L249L|PHEX_uc011mjs.2_Silent_p.L152L	p.L249L	NM_000444	NP_000435	P78562	PHEX_HUMAN			6	950	+			249					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.747T>G	CCDS14204.1																																																																																				0.413	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		23	233	0	0	0	1	0	23	233				
HNRNPDL	9987	broad.mit.edu	37	4	83349287	83349287	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr4:83349287G>A	ENST00000295470.5	-	3	833	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.P101S|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.P220S|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.P101S|HNRNPDL_ENST00000514511.1_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	220	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GCCCTTTTGGGATCTATCAAT	0.373																																						uc003hmr.3																			0				breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(658-660)Ccc>Tcc		Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.							96.0	99.0	98.0					4																	83349287		2203	4300	6503	SO:0001583	missense	9987				RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83349287G>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.658C>T	4.37:g.83349287G>A	ENSP00000295470:p.Pro220Ser					ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.P220S	p.P220S	NM_031372	NP_112740	O14979	HNRDL_HUMAN			2	1193	-		Hepatocellular(203;0.114)	220			RRM 1.		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.658C>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.001272	0.74818	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.74106	-0.81;-0.81;-0.81	6.17	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	M	0.81341	2.54	0.80722	D	1	D;B	0.65815	0.995;0.249	D;B	0.69142	0.962;0.186	D	0.87197	0.2238	10	0.87932	D	0	.	15.9972	0.80260	0.065:0.0:0.935:0.0	.	101;220	O14979-3;O14979	.;HNRDL_HUMAN	S	220;220;101	ENSP00000295470:P220S;ENSP00000422040:P220S;ENSP00000338552:P101S	ENSP00000295470:P220S	P	-	1	0	HNRPDL	83568311	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.373000	0.97168	2.941000	0.99782	0.655000	0.94253	CCC		0.373	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		6	120	0	0	0	1	0	6	120				
ANXA1	301	broad.mit.edu	37	9	75775259	75775259	+	Silent	SNP	A	A	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr9:75775259A>G	ENST00000376911.1	+	4	1233	c.351A>G	c.(349-351)caA>caG	p.Q117Q	ANXA1_ENST00000257497.6_Silent_p.Q117Q			P04083	ANXA1_HUMAN	annexin A1	117					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CTCCAGCGCAATTTGATGCTG	0.428																																						uc004ajf.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(349-351)caA>caG		Homo sapiens annexin A1 (ANXA1), mRNA.	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						107.0	107.0	107.0					9																	75775259		2203	4300	6503	SO:0001819	synonymous_variant	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775259A>G	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.351A>G	9.37:g.75775259A>G						ANXA1_uc004ajg.1_Silent_p.Q117Q	p.Q117Q	NM_000700	NP_000691	P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	4	425	+		all_epithelial(88;2.54e-11)	117						Silent	SNP	ENST00000376911.1	37	c.351A>G	CCDS6645.1																																																																																				0.428	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		3	152	0	0	0	1	0	3	152				
GPATCH1	55094	broad.mit.edu	37	19	33592467	33592467	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr19:33592467T>C	ENST00000170564.2	+	9	1381	c.1067T>C	c.(1066-1068)tTa>tCa	p.L356S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	356					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCTAAACCTTTATCTTCTAAG	0.308																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1066-1068)tTa>tCa		Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.							109.0	105.0	106.0					19																	33592467		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33592467T>C	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1067T>C	19.37:g.33592467T>C	ENSP00000170564:p.Leu356Ser						p.L356S	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			8	1381	+	Esophageal squamous(110;0.137)		356					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1067T>C	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	T	5.798	0.331483	0.10956	.	.	ENSG00000076650	ENST00000170564	T	0.12774	2.65	5.64	4.62	0.57501	.	0.397513	0.28317	N	0.015793	T	0.06872	0.0175	N	0.20574	0.59	0.80722	D	1	B	0.13145	0.007	B	0.15052	0.012	T	0.26815	-1.0092	10	0.09338	T	0.73	-13.0817	5.3243	0.15898	0.0:0.2264:0.0:0.7736	.	356	Q9BRR8	GPTC1_HUMAN	S	356	ENSP00000170564:L356S	ENSP00000170564:L356S	L	+	2	0	GPATCH1	38284307	0.985000	0.35326	1.000000	0.80357	0.991000	0.79684	2.197000	0.42696	2.278000	0.76064	0.523000	0.50628	TTA		0.308	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		3	93	0	0	0	1	0	3	93				
PTGR1	22949	broad.mit.edu	37	9	114345802	114345802	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr9:114345802C>T	ENST00000407693.2	-	6	707	c.445G>A	c.(445-447)Gca>Aca	p.A149T	PTGR1_ENST00000309195.5_Missense_Mutation_p.A149T|PTGR1_ENST00000238248.3_Missense_Mutation_p.A26T|PTGR1_ENST00000538962.1_Missense_Mutation_p.A149T	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	149					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CCAGCTGCTGCATTAACCATC	0.448																																					Ovarian(200;132 2151 7551 19220 46064)	uc010mue.3																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(445-447)Gca>Aca		Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.							179.0	163.0	168.0					9																	114345802		2203	4300	6503	SO:0001583	missense	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114345802C>T	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.445G>A	9.37:g.114345802C>T	ENSP00000385763:p.Ala149Thr					PTGR1_uc011lwr.2_Missense_Mutation_p.A149T|PTGR1_uc004bfh.2_Missense_Mutation_p.A149T|PTGR1_uc004bfi.3_Missense_Mutation_p.A149T|PTGR1_uc004bfj.3_Missense_Mutation_p.A26T	p.A149T	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN			5	708	-			149					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	c.445G>A	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637103	0.67130	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.72	4.72	0.59763	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	M	0.89601	3.045	0.80722	D	1	D;P;P;D	0.69078	0.997;0.955;0.768;0.981	P;B;B;P	0.59424	0.857;0.306;0.143;0.479	T	0.73987	-0.3809	10	0.87932	D	0	-7.9426	17.3571	0.87340	0.0:1.0:0.0:0.0	.	149;149;26;149	F5GY50;B4DPK3;Q5JVP3;Q14914	.;.;.;PTGR1_HUMAN	T	149;149;149;26;26	ENSP00000440281:A149T;ENSP00000311572:A149T;ENSP00000385763:A149T;ENSP00000238248:A26T	ENSP00000238248:A26T	A	-	1	0	PTGR1	113385623	1.000000	0.71417	0.636000	0.29352	0.184000	0.23303	4.957000	0.63652	2.550000	0.86006	0.655000	0.94253	GCA		0.448	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			5	284	0	0	0	1	0	5	284				
TBC1D5	9779	broad.mit.edu	37	3	17349528	17349528	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr3:17349528A>G	ENST00000253692.7	-	14	2758	c.1094T>C	c.(1093-1095)gTa>gCa	p.V365A	TBC1D5_ENST00000446818.2_Missense_Mutation_p.V365A|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.V317A|TBC1D5_ENST00000429383.4_Missense_Mutation_p.V365A	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	365						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GATATAATCTACTAAACCCAG	0.463																																						uc010hev.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(1093-1095)gTa>gCa		Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.							81.0	78.0	79.0					3																	17349528		2203	4300	6503	SO:0001583	missense	9779					intracellular	Rab GTPase activator activity|protein binding	g.chr3:17349528A>G	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1094T>C	3.37:g.17349528A>G	ENSP00000253692:p.Val365Ala					TBC1D5_uc010heu.3_5'UTR|TBC1D5_uc003cbf.3_Missense_Mutation_p.V365A|TBC1D5_uc003cbe.3_Missense_Mutation_p.V365A|TBC1D5_uc010hew.1_Missense_Mutation_p.V317A	p.V365A	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN			14	1358	-			365					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1094T>C	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417639	0.62622	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.55	5.55	0.83447	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.41710	1.295	0.80722	D	1	B;P;P	0.51240	0.372;0.943;0.94	P;P;P	0.62014	0.74;0.854;0.897	T	0.00415	-1.1753	10	0.66056	D	0.02	-17.9645	15.6976	0.77512	1.0:0.0:0.0:0.0	.	317;365;365	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	A	365;365;365;317	ENSP00000253692:V365A;ENSP00000398127:V365A;ENSP00000402935:V365A;ENSP00000411925:V317A	ENSP00000253692:V365A	V	-	2	0	TBC1D5	17324532	1.000000	0.71417	0.113000	0.21522	0.443000	0.32047	9.173000	0.94815	2.115000	0.64714	0.477000	0.44152	GTA		0.463	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		3	83	0	0	0	1	0	3	83				
AGAP11	119385	broad.mit.edu	37	10	88768854	88768854	+	RNA	SNP	G	G	A			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr10:88768854G>A	ENST00000444431.1	+	0	3454				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TCCGTCACTGGCCAAACGTGC	0.507																																						uc001kee.2																			0											c.(844-846)gGc>gAc		Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.							104.0	113.0	110.0					10																	88768854		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768854G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768854G>A						AGAP11_uc001kef.3_Intron	p.G282D	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN			11	2049	+			282			PH.		B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37	c.845G>A																																																																																					0.507	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		4	284	0	0	0	1	0	4	284				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		49	81	0	0	0	1	0	49	81				
LRRTM4	80059	broad.mit.edu	37	2	77746748	77746748	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr2:77746748C>T	ENST00000409093.1	-	3	583	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	LRRTM4_ENST00000409911.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409088.3_Missense_Mutation_p.G83S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G83S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	83					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.G83C(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGTTAAGGCCGGCAAACTGA	0.403																																						uc002snr.3																			2	Substitution - Missense(2)	p.G83C(3)|p.A82V(1)|p.A82A(1)	lung(2)	autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(247-249)Ggc>Agc		Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.							131.0	124.0	126.0					2																	77746748		1902	4115	6017	SO:0001583	missense	80059					integral to membrane		g.chr2:77746748C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.247G>A	2.37:g.77746748C>T	ENSP00000386357:p.Gly83Ser					LRRTM4_uc002snq.3_Missense_Mutation_p.G83S|LRRTM4_uc002sns.2_Missense_Mutation_p.G83S|LRRTM4_uc002snt.2_Missense_Mutation_p.G84S	p.G83S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	2	662	-			83					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.247G>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406729	0.25378	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.96	5.07	0.68467	.	0.154837	0.64402	N	0.000013	T	0.39627	0.1085	N	0.20881	0.62	0.58432	D	0.999991	P;B;B	0.37985	0.613;0.307;0.143	B;B;B	0.32211	0.142;0.087;0.057	T	0.24584	-1.0156	10	0.25106	T	0.35	.	12.6798	0.56916	0.0:0.9182:0.0:0.0818	.	84;83;83	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	84;83;83;83;84	ENSP00000387228:G84S;ENSP00000387297:G83S;ENSP00000386357:G83S;ENSP00000386236:G83S;ENSP00000386286:G84S	ENSP00000386236:G83S	G	-	1	0	LRRTM4	77600256	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.893000	0.56243	1.486000	0.48398	0.655000	0.94253	GGC		0.403	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		4	122	0	0	0	1	0	4	122				
FAM64A	54478	broad.mit.edu	37	17	6348539	6348539	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr17:6348539G>A	ENST00000250056.8	+	2	192	c.109G>A	c.(109-111)Gag>Aag	p.E37K	FAM64A_ENST00000572595.2_Missense_Mutation_p.E37K|FAM64A_ENST00000572447.1_Missense_Mutation_p.E37K|FAM64A_ENST00000571373.1_Missense_Mutation_p.E37K|FAM64A_ENST00000570337.2_Missense_Mutation_p.E37K|FAM64A_ENST00000576056.1_Missense_Mutation_p.E37K	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	37					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CAGCCATCAGGAGACCTCTGT	0.647																																						uc002gcw.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(109-111)Gag>Aag		Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA.							28.0	29.0	29.0					17																	6348539		2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6348539G>A		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"""CALM interacting protein expressed in thymus and spleen"""					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.109G>A	17.37:g.6348539G>A	ENSP00000250056:p.Glu37Lys					FAM64A_uc002gcu.2_Missense_Mutation_p.E37K	p.E37K	NM_001195228	NP_001182157	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	1	218	+			37					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.109G>A	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482282	0.44147	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56444	0.46	5.08	3.08	0.35506	.	0.712790	0.12957	N	0.425350	T	0.41236	0.1150	L	0.43152	1.355	0.09310	N	1	P;B	0.38048	0.616;0.447	B;B	0.39617	0.305;0.168	T	0.16600	-1.0397	10	0.14252	T	0.57	-9.026	6.7574	0.23523	0.0941:0.1788:0.7271:0.0	.	37;37	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	K	37	ENSP00000250056:E37K	ENSP00000250056:E37K	E	+	1	0	FAM64A	6289263	0.177000	0.23109	0.002000	0.10522	0.022000	0.10575	2.085000	0.41634	0.725000	0.32318	0.655000	0.94253	GAG		0.647	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		22	32	0	0	0	1	0	22	32				
NEO1	4756	broad.mit.edu	37	15	73528814	73528814	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr15:73528814A>G	ENST00000339362.5	+	9	1865	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	NEO1_ENST00000560262.1_Missense_Mutation_p.Y473C|NEO1_ENST00000261908.6_Missense_Mutation_p.Y473C|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.Y473C			Q92859	NEO1_HUMAN	neogenin 1	473	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACCTTACCTACTCTGTGTTC	0.562																																						uc002avm.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1417-1419)tAc>tGc		Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.							181.0	149.0	160.0					15																	73528814		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73528814A>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1418A>G	15.37:g.73528814A>G	ENSP00000341198:p.Tyr473Cys					NEO1_uc010ukx.2_Missense_Mutation_p.Y473C|NEO1_uc010uky.2_Missense_Mutation_p.Y473C|NEO1_uc002avn.4_Missense_Mutation_p.Y493C|NEO1_uc010ukz.2_5'UTR	p.Y473C	NM_002499	NP_002490	Q92859	NEO1_HUMAN			7	1610	+			473			Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1418A>G	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791756	0.70452	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.75050	-0.9;-0.9	6.05	6.05	0.98169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054961	0.85682	D	0.000000	D	0.90438	0.7006	H	0.95645	3.7	0.80722	D	1	P;D;D;D	0.76494	0.804;0.999;0.979;0.991	P;D;D;D	0.79784	0.669;0.993;0.968;0.947	D	0.93073	0.6484	10	0.87932	D	0	-12.0065	16.5932	0.84781	1.0:0.0:0.0:0.0	.	473;473;211;473	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	C	473;211;473	ENSP00000341198:Y473C;ENSP00000261908:Y473C	ENSP00000261908:Y473C	Y	+	2	0	NEO1	71315867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.077000	0.76814	2.320000	0.78422	0.528000	0.53228	TAC		0.562	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	239	0	0	0	1	0	4	239				
HOXC12	3228	broad.mit.edu	37	12	54348806	54348806	+	Silent	SNP	G	G	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr12:54348806G>T	ENST00000243103.3	+	1	189	c.93G>T	c.(91-93)gcG>gcT	p.A31A	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	31					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						ACTTCCGCGCGTCCGGGGCGC	0.652																																						uc010soq.2																			0				large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						c.(91-93)gcG>gcT		Homo sapiens homeobox C12 (HOXC12), mRNA.							31.0	38.0	35.0					12																	54348806		2203	4300	6503	SO:0001819	synonymous_variant	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54348806G>T	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.93G>T	12.37:g.54348806G>T							p.A31A	NM_173860	NP_776272	P31275	HXC12_HUMAN			0	93	+			31					Q9BXJ6	Silent	SNP	ENST00000243103.3	37	c.93G>T	CCDS8866.1																																																																																				0.652	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		6	45	0	0	0	1	0	6	45				
CD44	960	broad.mit.edu	37	11	35232956	35232956	+	Silent	SNP	T	T	C			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr11:35232956T>C	ENST00000428726.2	+	14	1893	c.1770T>C	c.(1768-1770)acT>acC	p.T590T	CD44_ENST00000526669.2_Intron|RP1-68D18.2_ENST00000510619.2_RNA|CD44_ENST00000433354.2_Silent_p.T562T|CD44_ENST00000263398.6_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Silent_p.T547T|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Intron|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000433892.2_Silent_p.T341T|CD44_ENST00000434472.2_Silent_p.T277T|CD44_ENST00000415148.2_Silent_p.T547T	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	590	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CTGCAGTTACTGTTGGAGATT	0.398																																						uc001mvu.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1768-1770)acT>acC		Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						215.0	197.0	203.0					11																	35232956		2202	4298	6500	SO:0001819	synonymous_variant	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35232956T>C	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1770T>C	11.37:g.35232956T>C						CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Silent_p.T547T|CD44_uc001mvw.3_Silent_p.T341T|CD44_uc001mwc.4_Silent_p.T277T|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Silent_p.T118T|CD44_uc010res.2_Silent_p.T154T|CD44_uc010ret.2_Non-coding_Transcript	p.T590T	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		13	2204	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	590			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Silent	SNP	ENST00000428726.2	37	c.1770T>C	CCDS7897.1																																																																																				0.398	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		8	262	0	0	0	1	0	8	262				
C5orf42	65250	broad.mit.edu	37	5	37169637	37169637	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr5:37169637T>A	ENST00000508244.1	-	33	6582	c.6489A>T	c.(6487-6489)ttA>ttT	p.L2163F	C5orf42_ENST00000425232.2_Missense_Mutation_p.L2163F|C5orf42_ENST00000274258.7_Missense_Mutation_p.L1043F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2163						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTAATTGACATAAAGGAATAC	0.368																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(6487-6489)ttA>ttT		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							66.0	69.0	68.0					5																	37169637		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169637T>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6489A>T	5.37:g.37169637T>A	ENSP00000421690:p.Leu2163Phe					C5orf42_uc011coy.1_Missense_Mutation_p.L663F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.L1238F|C5orf42_uc003jkr.1_Missense_Mutation_p.L196F	p.L2163F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		33	6720	-	all_lung(31;0.000616)		2163					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.6489A>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112594	0.56398	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27402	1.71;1.71;1.67;1.69	5.39	-4.43	0.03568	.	1.265550	0.05870	N	0.624454	T	0.17408	0.0418	N	0.20986	0.625	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.11329	0.004;0.006	T	0.29941	-0.9995	10	0.45353	T	0.12	.	4.4666	0.11692	0.4596:0.2531:0.0:0.2873	.	2163;1043	E9PH94;Q9H799	.;CE042_HUMAN	F	2163;2163;1043;1211;1043	ENSP00000421690:L2163F;ENSP00000389014:L2163F;ENSP00000274258:L1043F;ENSP00000424223:L1211F	ENSP00000274258:L1043F	L	-	3	2	C5orf42	37205394	0.001000	0.12720	0.000000	0.03702	0.436000	0.31835	0.039000	0.13884	-0.668000	0.05296	0.533000	0.62120	TTA		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		40	63	0	0	0	1	0	40	63				
CLCN6	1185	broad.mit.edu	37	1	11888618	11888618	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr1:11888618G>C	ENST00000346436.6	+	12	1110	c.1058G>C	c.(1057-1059)tGt>tCt	p.C353S	CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376496.3_Missense_Mutation_p.C353S|CLCN6_ENST00000376487.3_Missense_Mutation_p.C331S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	353					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTCAACTGTCTGAACAAG	0.537																																						uc001ate.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1057-1059)tGt>tCt		Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.							177.0	188.0	184.0					1																	11888618		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity	g.chr1:11888618G>C	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1058G>C	1.37:g.11888618G>C	ENSP00000234488:p.Cys353Ser					CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.2_Missense_Mutation_p.C69S|CLCN6_uc010oau.2_Missense_Mutation_p.C331S	p.C353S	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	11	1171	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	353					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.1058G>C	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821060	0.50633	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.93659	-3.26;-3.26;-3.26	6.07	6.07	0.98685	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	N	0.05414	-0.055	0.80722	D	1	B;B	0.17465	0.022;0.011	B;B	0.15052	0.006;0.012	T	0.80511	-0.1350	10	0.20046	T	0.44	-19.9849	19.6321	0.95713	0.0:0.0:1.0:0.0	.	331;353	F8W9R3;P51797	.;CLCN6_HUMAN	S	353;331;353	ENSP00000234488:C353S;ENSP00000365670:C331S;ENSP00000365679:C353S	ENSP00000234488:C353S	C	+	2	0	CLCN6	11811205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	TGT		0.537	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		4	399	0	0	0	1	0	4	399				
PPOX	5498	broad.mit.edu	37	1	161140206	161140206	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr1:161140206G>C	ENST00000367999.4	+	10	1261	c.995G>C	c.(994-996)gGa>gCa	p.G332A	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G332A|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Missense_Mutation_p.G77A	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	332			G -> A (in VP; abolishes activity; impairs protein folding and/or stability). {ECO:0000269|PubMed:18570668, ECO:0000269|PubMed:23430901}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGATTTGGACATTTGGTG	0.557																																						uc001fyj.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(994-996)gGa>gCa		Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							88.0	82.0	84.0					1																	161140206		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140206G>C	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.995G>C	1.37:g.161140206G>C	ENSP00000356978:p.Gly332Ala					PPOX_uc001fyg.2_Missense_Mutation_p.G332A|PPOX_uc010pkg.1_Missense_Mutation_p.G170A|PPOX_uc001fyi.2_Missense_Mutation_p.G170A|PPOX_uc010pkh.1_Missense_Mutation_p.G77A	p.G332A	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	1285	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		332					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.995G>C	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.56|18.56	3.650072|3.650072	0.67472|0.67472	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542	.|D;D;D	.|0.99748	.|-6.62;-6.62;-6.62	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Amine oxidase (1);	.|0.110089	.|0.64402	.|D	.|0.000008	D|D	0.99796|0.99796	0.9913|0.9913	M|M	0.93720|0.93720	3.45|3.45	0.48040|0.48040	D|D	0.999574|0.999574	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.97110	.|1.0;0.999;0.962;0.972	D|D	0.97274|0.97274	0.9913|0.9913	5|10	.|0.72032	.|D	.|0.01	-8.1151|-8.1151	14.6179|14.6179	0.68562|0.68562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|77;3;170;332	.|B4DQQ7;Q96SE3;B3KT30;P50336	.|.;.;.;PPOX_HUMAN	H|A	85;55|332;332;299;77	.|ENSP00000343943:G332A;ENSP00000356978:G332A;ENSP00000396841:G77A	.|ENSP00000343943:G332A	D|G	+|+	1|2	0|0	PPOX|PPOX	159406830|159406830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.747000|7.747000	0.85070|0.85070	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.557	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		3	104	0	0	0	1	0	3	104				
OFD1	8481	broad.mit.edu	37	X	13778527	13778527	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chrX:13778527A>T	ENST00000340096.6	+	16	2275	c.1948A>T	c.(1948-1950)Aga>Tga	p.R650*	OFD1_ENST00000380550.3_Nonsense_Mutation_p.R610*|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Nonsense_Mutation_p.R510*	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	650	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						AAAGGCTTTCAGAAGTTACCA	0.478																																						uc004cvp.4																			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.(1948-1950)Aga>Tga		Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.							74.0	71.0	72.0					X																	13778527		2203	4300	6503	SO:0001587	stop_gained	8481				G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778527A>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.1948A>T	X.37:g.13778527A>T	ENSP00000344314:p.Arg650*					OFD1_uc004cvr.4_Nonsense_Mutation_p.R217*|OFD1_uc011mil.2_Nonsense_Mutation_p.R217*|OFD1_uc004cvq.4_Nonsense_Mutation_p.R510*|OFD1_uc010nen.3_Nonsense_Mutation_p.R649*|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Nonsense_Mutation_p.R609*|OFD1_uc004cvv.4_Nonsense_Mutation_p.R609*	p.R650*	NM_003611	NP_003602	O75665	OFD1_HUMAN			15	2307	+			650			Mediates homooligomerization.|Mediates the interaction with SDCCAG8.		B9ZVU5|O75666|Q4VAK4	Nonsense_Mutation	SNP	ENST00000340096.6	37	c.1948A>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	47	13.480964	0.99744	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	.	.	.	5.67	2.2	0.27929	.	0.217516	0.45606	D	0.000357	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9488	8.5217	0.33279	0.3763:0.5098:0.0:0.1139	.	.	.	.	X	610;650;510	.	ENSP00000344314:R650X	R	+	1	2	OFD1	13688448	0.994000	0.37717	0.002000	0.10522	0.906000	0.53458	2.282000	0.43461	0.053000	0.16036	0.430000	0.28490	AGA		0.478	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		42	138	0	0	0	1	0	42	138				
KMT2A	4297	broad.mit.edu	37	11	118374769	118374769	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr11:118374769A>T	ENST00000389506.5	+	27	8153	c.8153A>T	c.(8152-8154)gAt>gTt	p.D2718V	KMT2A_ENST00000534358.1_Missense_Mutation_p.D2721V|KMT2A_ENST00000354520.4_Missense_Mutation_p.D2680V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2718		Cleavage; by TASP1, site 2.			anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCACAGTTGGATGGTGTTGAT	0.428																																						uc001ptb.3										"""T, O"""					"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""		"""AML, ALL"""		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(8161-8163)gAt>gTt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.							71.0	65.0	67.0					11																	118374769		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374769A>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8153A>T	11.37:g.118374769A>T	ENSP00000374157:p.Asp2718Val					MLL_uc001pta.3_Missense_Mutation_p.D2718V	p.D2721V	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	8185	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2718					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8162A>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.287019	0.40494	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.92595	-3.07;-3.07;-3.01	5.51	5.51	0.81932	.	0.098878	0.64402	D	0.000002	D	0.95401	0.8507	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95809	0.8840	10	0.87932	D	0	.	15.794	0.78394	1.0:0.0:0.0:0.0	.	2721;2718	E9PQG7;Q03164	.;MLL1_HUMAN	V	2721;2718;2680;1628	ENSP00000436786:D2721V;ENSP00000374157:D2718V;ENSP00000346516:D2680V	ENSP00000346516:D2680V	D	+	2	0	MLL	117879979	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.650000	0.91073	2.317000	0.78254	0.459000	0.35465	GAT		0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	64	0	0	0	1	0	5	64				
ZNF268	10795	broad.mit.edu	37	12	133780834	133780834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr12:133780834delC	ENST00000536435.2	+	6	2892	c.2562delC	c.(2560-2562)cacfs	p.H854fs	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.H854fs|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.H693fs|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	854					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTCTTGTACACCAGAGAATGC	0.413																																						uc010tcf.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(2560-2562)cacfs		Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 1, mRNA.							142.0	138.0	139.0					12																	133780834		692	1591	2283	SO:0001589	frameshift_variant	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133780834delC	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.2562delC	12.37:g.133780834delC	ENSP00000444412:p.His854fs					ZNF268_uc010tbv.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tbz.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tcc.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tcd.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc010tch.2_Frame_Shift_Del_p.H854fs|ZNF268_uc021rgu.1_Frame_Shift_Del_p.H771fs	p.H854fs	NM_003415	NP_001159354	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	2892	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	854					Q8TDG8|Q96RH4|Q9BZJ9	Frame_Shift_Del	DEL	ENST00000536435.2	37	c.2562delC	CCDS45012.1																																																																																				0.413	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		2	4						2	4	---	---	---	---
