#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731																																						ENST00000283147.6											1	Substitution - Missense(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(352-354)cAg>cTg	bone morphogenetic protein 6																																			SO:0001583	missense	654			BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727541A>T	AF083030	AF083030	CCDS4503.1	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162	ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	1073	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			112266	112266	"""vegetal related growth factor (TGFB-related)"""	VGR	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	1427904, 1453478	Standard	Standard	NM_001718	NM_001718		Approved	VGR1	uc003mxu.4	uc003mxu.4	P22004	P22004	OTTHUMG00000014217	OTTHUMG00000014217	ENST00000283147.6:c.353A>T	6.37:g.7727541A>T	ENSP00000283147:p.Gln118Leu			p.Q118L	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	512	+	Ovarian(93;0.0721)		118		Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.353A>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304211	0.10678	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72725	-0.68	3.64	-7.28	0.01456	3.64	-7.28	0.01456	Transforming growth factor-beta, N-terminal (1);	0.609742	0.13235	N	0.403351	T	0.27134	0.0665	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10382	-1.0632	10	0.41790	T	0.15	.	2.9855	0.05966	0.1788:0.4954:0.0931:0.2327	.	118	P22004	BMP6_HUMAN	L	40;118;81	ENSP00000283147:Q118L	ENSP00000283147:Q118L	Q	+	2	0	0	BMP6	7672540	7672540	0.177000	0.23109	0.002000	0.10522	0.071000	0.16799	-0.158000	0.10070	-1.400000	0.02061	-1.802000	0.00618	CAG		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1		3.103468	-15	-15	11	11	NM_001718		3	7.6436	7.643600	26	0.103448	0	0	0	1	0	3	26	0.103448
ZNF555	148254	broad.mit.edu	37	19	2852695	2852695	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr19:2852695G>A	ENST00000334241.4	+	4	770	c.632G>A	c.(631-633)cGt>cAt	p.R211H	ZNF555_ENST00000591539.1_Missense_Mutation_p.R210H|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R211L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTCCTCGTACTTCCTCC	0.448																																						ENST00000334241.4											1	Substitution - Missense(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(631-633)cGt>cAt	zinc finger protein 555						126.0	106.0	112.0					19																	2852695		2203	4300	6503	SO:0001583	missense	148254			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852695G>A	AL832140	AL832140	CCDS12096.1, CCDS59329.1	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			2013-09-20			ENSG00000186300	ENSG00000186300	ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	28382	28382	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152791	NM_152791		Approved	MGC26707	uc002lwo.3	uc002lwo.3	Q8NEP9	Q8NEP9	OTTHUMG00000180500	OTTHUMG00000180500	ENST00000334241.4:c.632G>A	19.37:g.2852695G>A	ENSP00000334853:p.Arg211His		ZNF555_ENST00000591539.1_Missense_Mutation_p.R210H|AC006130.3_ENST00000589365.1_RNA	p.R211H	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	770	+			211		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.632G>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316525	0.23908	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.36340	1.26	3.4	0.557	0.17260	3.4	0.557	0.17260	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12860	0.0312	N	0.03917	-0.325	0.09310	N	1	B;B	0.24920	0.045;0.114	B;B	0.15052	0.007;0.012	T	0.30090	-0.9990	9	0.15952	T	0.53	.	5.2387	0.15460	0.1361:0.384:0.4798:0.0	.	211;210	Q8NEP9;A8KA89	ZN555_HUMAN;.	H	211;210	ENSP00000334853:R211H	ENSP00000334853:R211H	R	+	2	0	0	ZNF555	2803695	2803695	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-2.943000	0.00682	0.096000	0.17463	0.561000	0.74099	CGT		0.448	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		78.333283	-31	-31	83	83	NM_152791		26	79.252247	79.252247	43	0.376812	0	0	0	1	0	26	43	0.376812
BPI	671	broad.mit.edu	37	20	36954747	36954747	+	Silent	SNP	C	C	G			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr20:36954747C>G	ENST00000262865.4	+	10	1175	c.1086C>G	c.(1084-1086)acC>acG	p.T362T	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	362					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGCAGCCCACCGGCCTTACCT	0.592																																						ENST00000262865.4											0			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(1084-1086)acC>acG	bactericidal/permeability-increasing protein						90.0	72.0	78.0					20																	36954747		2203	4300	6503	SO:0001819	synonymous_variant	671			defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36954747C>G	J04739	J04739	CCDS13303.1	CCDS13303.1	20q11.23	2011-08-16			2011-08-16			ENSG00000101425	ENSG00000101425	ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	"""BPI fold containing"""	1095	1095	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	"""BPI fold containing family D, member 1"""	109195	109195						8432532	8432532	Standard	Standard	NM_001725	NM_001725		Approved	BPIFD1	uc002xia.2	uc002xia.2	P17213	P17213	OTTHUMG00000032441	OTTHUMG00000032441	ENST00000262865.4:c.1086C>G	20.37:g.36954747C>G			BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	p.T362T	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			10	1175	+		Myeloproliferative disorder(115;0.00878)	362		B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.1086C>G	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	3.442	-0.113799	0.06881	.	.	ENSG00000101425	ENST00000417318	.	.	.	4.52	-9.05	0.00730	4.52	-9.05	0.00730	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09574	-1.0668	4	.	.	.	-0.0388	2.7084	0.05167	0.2925:0.3936:0.0742:0.2397	.	.	.	.	R	188	.	.	P	+	2	0	0	BPI	36388161	36388161	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-6.459000	0.00065	-3.126000	0.00237	-0.128000	0.14901	CCG		0.592	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2		21.923407	6	6	32	32	NM_001725		7	21.977753	21.977753	9	0.437500	0	0	0	1	0	7	9	0.4375
PRDM4	11108	broad.mit.edu	37	12	108133200	108133200	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr12:108133200G>A	ENST00000228437.5	-	11	2512	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	685					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCCTGCCTCCGCATAAACAAC	0.517																																						ENST00000228437.5											0			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2053-2055)Cgg>Tgg	PR domain containing 4						183.0	145.0	158.0					12																	108133200		2203	4300	6503	SO:0001583	missense	11108			cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108133200G>A	AF144757	AF144757	CCDS9115.1	CCDS9115.1	12q23-q24.1	2013-01-08			2013-01-08				ENSG00000110851		ENSG00000110851		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	9348	9348	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605780	605780						10552934	10552934	Standard	Standard	NM_012406	NM_012406		Approved	PFM1	uc001tmp.3	uc001tmp.3	Q9UKN5	Q9UKN5	OTTHUMG00000169914	OTTHUMG00000169914	ENST00000228437.5:c.2053C>T	12.37:g.108133200G>A	ENSP00000228437:p.Arg685Trp		RP11-864J10.4_ENST00000546714.1_RNA	p.R685W	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			11	2512	-			685		Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.2053C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604815	0.87157	.	.	ENSG00000110851	ENST00000228437	T	0.08008	3.14	5.44	5.44	0.79542	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.051322	0.85682	D	0.000000	T	0.20981	0.0505	L	0.31804	0.96	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.01087	-1.1456	10	0.59425	D	0.04	-3.5745	19.2785	0.94042	0.0:0.0:1.0:0.0	.	685	Q9UKN5	PRDM4_HUMAN	W	685	ENSP00000228437:R685W	ENSP00000228437:R685W	R	-	1	2	2	PRDM4	106657330	106657330	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.220000	0.58567	2.541000	0.85698	0.650000	0.86243	CGG		0.517	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1		-2.011866	-25	-25	40	40	NM_012406		3	6.477655	6.477655	41	0.068182	0	0	0	1	0	3	41	0.068182
RAB38	23682	broad.mit.edu	37	11	87882992	87882992	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr11:87882992A>C	ENST00000243662.6	-	2	416	c.334T>G	c.(334-336)Tta>Gta	p.L112V		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	112					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGGAGACTTAACTTGGAGTCC	0.463																																						ENST00000243662.6											0			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(334-336)Tta>Gta	RAB38, member RAS oncogene family						185.0	179.0	181.0					11																	87882992		2201	4299	6500	SO:0001583	missense	23682			protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87882992A>C	AF235022	AF235022	CCDS8281.1	CCDS8281.1	11q14	2008-05-14			2008-05-14			ENSG00000123892	ENSG00000123892	ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	"""RAB, member RAS oncogene"""	9776	9776	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606281	606281						10910072	10910072	Standard	Standard	NM_022337	NM_022337		Approved	NY-MEL-1	uc001pcj.2	uc001pcj.2	P57729	P57729	OTTHUMG00000167288	OTTHUMG00000167288	ENST00000243662.6:c.334T>G	11.37:g.87882992A>C	ENSP00000243662:p.Leu112Val			p.L112V	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			2	416	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	112		Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.334T>G	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.483|0.483	-0.878893|-0.878893	0.02550|0.02550	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.76578|.	-1.03|.	5.38|5.38	4.25|4.25	0.50352|0.50352	5.38|5.38	4.25|4.25	0.50352|0.50352	Small GTP-binding protein domain (1);|.	0.149194|.	0.41823|.	D|.	0.000805|.	T|T	0.18045|0.18045	0.0433|0.0433	N|N	0.01048|0.01048	-1.04|-1.04	0.53688|0.53688	D|D	0.999979|0.999979	B|.	0.06786|.	0.001|.	B|.	0.11329|.	0.006|.	T|T	0.06991|0.06991	-1.0796|-1.0796	9|5	.|.	.|.	.|.	-10.546|-10.546	9.8389|9.8389	0.40987|0.40987	0.857:0.0:0.143:0.0|0.857:0.0:0.143:0.0	.|.	112|.	P57729|.	RAB38_HUMAN|.	V|G	112|110	ENSP00000243662:L112V|.	.|.	L|V	-|-	1|2	2|0	2|0	RAB38|RAB38	87522640|87522640	87522640|87522640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	2.614000|2.614000	0.46359|0.46359	0.892000|0.892000	0.36259|0.36259	-0.353000|-0.353000	0.07706|0.07706	TTA|GTT		0.463	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2		121.233052	-46	-46	131	131			41	124.902941	124.902941	87	0.320312	0	0	0	1	0	41	87	0.320312
PDGFRA	5156	broad.mit.edu	37	4	55153609	55153609	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr4:55153609G>A	ENST00000257290.5	+	19	2906	c.2575G>A	c.(2575-2577)Gtg>Atg	p.V859M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.V619M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	859	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTTTCTGCCCGTGAAGTGGAT	0.502			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2575-2577)Gtg>Atg	platelet-derived growth factor receptor, alpha polypeptide						250.0	229.0	236.0					4																	55153609		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55153609G>A	D50001	D50001	CCDS3495.1	CCDS3495.1	4q12	2014-09-17			2014-09-17			ENSG00000134853	ENSG00000134853	ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	8803	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			173490	173490								Standard	Standard	NM_006206	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	uc003han.4	P16234	P16234	OTTHUMG00000128699	OTTHUMG00000128699	ENST00000257290.5:c.2575G>A	4.37:g.55153609G>A	ENSP00000257290:p.Val859Met		FIP1L1_ENST00000507166.1_Missense_Mutation_p.V619M	p.V859M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		19	2906	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		859	Protein kinase.	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2575G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027316	0.93518	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.84589	-1.87;-1.87	5.84	5.84	0.93424	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29522	U	0.011903	D	0.90103	0.6908	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.90334	0.4354	10	0.87932	D	0	.	20.1466	0.98079	0.0:0.0:1.0:0.0	.	859	P16234	PGFRA_HUMAN	M	619;859	ENSP00000423325:V619M;ENSP00000257290:V859M	ENSP00000423325:V619M	V	+	1	0	0	FIP1L1;PDGFRA	54848366	54848366	1.000000	0.71417	0.982000	0.44146	0.935000	0.57460	7.795000	0.85887	2.779000	0.95612	0.591000	0.81541	GTG		0.502	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		66.429028	-22	-22	117	117	NM_006206		25	72.108576	72.108576	75	0.250000	0	0	0	1	0	25	75	0.25
FLNC	2318	broad.mit.edu	37	7	128486478	128486478	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr7:128486478G>C	ENST00000325888.8	+	23	4349	c.4088G>C	c.(4087-4089)gGc>gCc	p.G1363A	FLNC_ENST00000346177.6_Missense_Mutation_p.G1363A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1363					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGAGGGTGGCTTGGTCAAC	0.627																																						ENST00000325888.8											0			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4087-4089)gGc>gCc	filamin C, gamma						51.0	57.0	55.0					7																	128486478		2057	4176	6233	SO:0001583	missense	2318			cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486478G>C	AB208865	AB208865	CCDS43644.1, CCDS47705.1	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	ENSG00000128591	ENSG00000128591				3756	3756	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""actin binding protein 280"""	"""actin binding protein 280"""	102565	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	7689010, 8088838	Standard	Standard	NM_001458	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	uc003vnz.4	Q14315	Q14315	OTTHUMG00000023627	OTTHUMG00000023627	ENST00000325888.8:c.4088G>C	7.37:g.128486478G>C	ENSP00000327145:p.Gly1363Ala		FLNC_ENST00000346177.6_Missense_Mutation_p.G1363A	p.G1363A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			23	4349	+			1363		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4088G>C	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287808	0.40494	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91631	-2.88;-2.88	5.07	5.07	0.68467	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92522	0.7625	L	0.31120	0.905	0.58432	D	0.99999	D;B	0.89917	1.0;0.08	D;B	0.91635	0.999;0.252	D	0.90047	0.4146	10	0.18710	T	0.47	.	15.114	0.72384	0.0:0.1521:0.8479:0.0	.	1363;1363	Q14315-2;Q14315	.;FLNC_HUMAN	A	1363	ENSP00000327145:G1363A;ENSP00000344002:G1363A	ENSP00000327145:G1363A	G	+	2	0	0	FLNC	128273714	128273714	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	4.802000	0.62539	2.360000	0.80028	0.555000	0.69702	GGC		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		36.860630	1	1	65	65			13	38.080353	38.080353	28	0.317073	0	0	0	1	0	13	28	0.317073
IGHG3	3502	broad.mit.edu	37	14	106235678	106235678	+	RNA	SNP	T	T	C			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr14:106235678T>C	ENST00000390551.2	-	0	1028							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CACCTGCTCTTGTCCACGGTG	0.597																																						ENST00000390551.2											0																	172.0	188.0	183.0					14																	106235678		2077	4223	6300			0						g.chr14:106235678T>C	M12958	M12958			14q32.33	2012-10-02			2012-10-02			ENSG00000211897	ENSG00000211897	ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	"""Immunoglobulins / IGH locus"""	5527	5527	other	immunoglobulin gene	other	immunoglobulin gene			147120	147120						6808505	6808505	Standard	Standard	NG_001019	NG_001019		Approved				P01860	P01860	OTTHUMG00000152539	OTTHUMG00000152539		14.37:g.106235678T>C											0	1028	-					A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																											0.597	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1		-19.641624	-64	-64	181	181	NG_001019		8	15.582082	15.582082	155	0.049080	0	0	0	1	0	8	155	0.04908
P2RX1	5023	hgsc.bcm.edu	37	17	3802232	3802232	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr17:3802232C>T	ENST00000225538.3	-	9	1236	c.962G>A	c.(961-963)gGc>gAc	p.G321D		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	321					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ACTCACCTTGCCGTCCACCAG	0.532																																																	0																	209.0	162.0	178.0					17																	3802232		2203	4300	6503	SO:0001583	missense	5023							X83688	X83688	CCDS11040.1	CCDS11040.1	17p13.3	2012-01-17			2012-01-17				ENSG00000108405		ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	8533	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600845	600845						8834001	8834001	Standard	Standard	NM_002558	NM_002558		Approved	P2X1	uc002fww.3	uc002fww.3	P51575	P51575			ENST00000225538.3:c.962G>A	17.37:g.3802232C>T	ENSP00000225538:p.Gly321Asp																	Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37		CCDS11040.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302093	0.81136	.	.	ENSG00000108405	ENST00000225538	T	0.21031	2.03	4.44	4.44	0.53790	4.44	4.44	0.53790	.	0.113110	0.64402	D	0.000017	T	0.55273	0.1910	M	0.91972	3.26	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	T	0.67538	-0.5645	10	0.87932	D	0	-15.6533	16.5954	0.84795	0.0:1.0:0.0:0.0	.	321	P51575	P2RX1_HUMAN	D	321	ENSP00000225538:G321D	ENSP00000225538:G321D	G	-	2	0	0	P2RX1	3748981	3748981	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.827000	0.69300	2.462000	0.83206	0.561000	0.74099	GGC		0.532	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1			-30	-30	136	136	NM_002558		6			143							6	143	
RGL4	266747	ucsc.edu	37	22	24036582	24036582	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr22:24036582G>T	ENST00000290691.5	+	5	2131	c.961G>T	c.(961-963)Gct>Tct	p.A321S	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.A185S|GUSBP11_ENST00000455485.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	321	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CATCGTCTCTGCTCTGTGCAG	0.567																																																	0																	157.0	104.0	122.0					22																	24036582		2203	4300	6503	SO:0001583	missense	266747									CCDS13811.1	CCDS13811.1	22q11.23	2008-02-22			2008-02-22			ENSG00000159496	ENSG00000159496	ENSG00000159496	ENSG00000159496				31911	31911	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	"""RalGDS related oncogene"""	612214	612214						9178890, 10851075	9178890, 10851075	Standard	Standard	NM_153615	NM_153615		Approved	Rgr	uc002zxn.3	uc002zxn.3	Q8IZJ4	Q8IZJ4	OTTHUMG00000150711	OTTHUMG00000150711	ENST00000290691.5:c.961G>T	22.37:g.24036582G>T	ENSP00000290691:p.Ala321Ser																	Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37		CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.947389	0.73672	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.40476	1.03;1.03;1.03	2.07	2.07	0.26955	2.07	2.07	0.26955	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.223543	0.30969	N	0.008504	T	0.57095	0.2030	M	0.65498	2.005	0.34186	D	0.671476	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.71656	0.974;0.961;0.974;0.974	T	0.69986	-0.4996	10	0.87932	D	0	.	10.2172	0.43175	0.0:0.0:1.0:0.0	.	185;185;321;321	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	S	185;321;321;321	ENSP00000383951:A185S;ENSP00000290691:A321S;ENSP00000402142:A321S	ENSP00000290691:A321S	A	+	1	0	0	RGL4	22366582	22366582	1.000000	0.71417	0.023000	0.16930	0.011000	0.07611	6.042000	0.70996	1.471000	0.48121	0.537000	0.68136	GCT		0.567	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1			-24	-24	22	22	NM_153615		4			21							4	21	
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		66.238237	-28	-28	53	53	NM_002067		22	66.800936	66.800936	34	0.392857	0	0	0	1	0	22	34	0.392857
FGF18	8817	broad.mit.edu	37	5	170863117	170863117	+	Silent	SNP	C	C	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr5:170863117C>T	ENST00000274625.5	+	3	634	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	30					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGAGGAGAACGTGGACTTCC	0.632																																						ENST00000274625.5											0			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(88-90)aaC>aaT	fibroblast growth factor 18						70.0	61.0	64.0					5																	170863117		2203	4300	6503	SO:0001819	synonymous_variant	8817			cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170863117C>T	AB007422	AB007422	CCDS4378.1	CCDS4378.1	5q34	2008-02-05			2008-02-05			ENSG00000156427	ENSG00000156427	ENSG00000156427	ENSG00000156427				3674	3674	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603726	603726						9660775, 9742123	9660775, 9742123	Standard	Standard	NM_003862	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	uc003mbk.3	O76093	O76093	OTTHUMG00000130464	OTTHUMG00000130464	ENST00000274625.5:c.90C>T	5.37:g.170863117C>T				p.N30N	NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	634	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	30		D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	37	c.90C>T	CCDS4378.1																																																																																									0.632	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2		15.604818	-13	-13	14	14	NM_033649, NM_003862		7	18.534876	18.534876	28	0.200000	0	0	0	1	0	7	28	0.2
IGSF9	57549	broad.mit.edu	37	1	159901298	159901298	+	Silent	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr1:159901298G>A	ENST00000368094.1	-	12	1655	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	IGSF9_ENST00000361509.3_Silent_p.C470C|IGSF9_ENST00000493195.1_Intron	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	486	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTGGCACTGCATTCCCAGT	0.642																																						ENST00000368094.1											0			central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1456-1458)tgC>tgT	immunoglobulin superfamily, member 9						56.0	56.0	56.0					1																	159901298		2203	4300	6503	SO:0001819	synonymous_variant	57549				cell junction|integral to membrane|synapse		g.chr1:159901298G>A	AB037776	AB037776	CCDS1190.1, CCDS44254.1	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			2013-02-11			ENSG00000085552	ENSG00000085552	ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	18132	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609738	609738						11991715	11991715	Standard	Standard	NM_020789	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	uc001fur.2	Q9P2J2	Q9P2J2	OTTHUMG00000022794	OTTHUMG00000022794	ENST00000368094.1:c.1458C>T	1.37:g.159901298G>A			IGSF9_ENST00000493195.1_Intron|IGSF9_ENST00000361509.3_Silent_p.C470C	p.C486C	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		12	1655	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	486	Ig-like 5.		Silent	SNP	ENST00000368094.1	37	c.1458C>T	CCDS44254.1																																																																																									0.642	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1		0.102506	-4	-4	37	37	NM_020789		3	6.712379	6.712379	34	0.081081	0	0	0	1	0	3	34	0.081081
PCGF6	84108	broad.mit.edu	37	10	105073982	105073983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr10:105073982_105073983insA	ENST00000369847.3	-	9	1023_1024	c.956_957insT	c.(955-957)ctafs	p.L319fs	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Frame_Shift_Ins_p.L244fs|RNU11-3P_ENST00000391111.1_RNA	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	319					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		GGATTTCCCTTAGAGTTTGATA	0.381																																						ENST00000369847.3											0			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8						c.(955-957)ctafs	polycomb group ring finger 6																																			SO:0001589	frameshift_variant	84108			negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105073982_105073983insA	AB047006	AB047006	CCDS7546.1, CCDS31275.1	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	21156	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607816	607816	"""ring finger protein 134"""	RNF134	"""ring finger protein 134"""	RNF134		12167161	12167161	Standard	Standard	NM_032154	NM_032154		Approved	MBLR	uc001kwt.3	uc001kwt.3	Q9BYE7	Q9BYE7	OTTHUMG00000018982	OTTHUMG00000018982	ENST00000369847.3:c.957dupT	10.37:g.105073983_105073983dupA	ENSP00000358862:p.Leu319fs		PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Frame_Shift_Ins_p.L244fs	p.L319fs	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	9	1023_1024	-		Colorectal(252;0.0747)|Breast(234;0.128)	319		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Frame_Shift_Ins	INS	ENST00000369847.3	37	c.956_957insT	CCDS31275.1																																																																																									0.381	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	.	.	-18	-18	91	91	NM_032154		33			84	0.28						33	84	0.28
