#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
DDX51	317781	broad.mit.edu	37	12	132624744	132624744	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr12:132624744C>T	ENST00000397333.3	-	12	1712	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	558	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TGCTGATGAGCCTGCCGGGAC	0.692																																						ENST00000397333.3											0			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1672-1674)ctG>ctA	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51						30.0	34.0	33.0					12																	132624744		2141	4208	6349	SO:0001630	splice_region_variant	317781			rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132624744C>T	BC040185	BC040185	CCDS41865.1	CCDS41865.1	12q24.33	2005-10-12			2005-10-12				ENSG00000185163		ENSG00000185163		"""DEAD-boxes"""	"""DEAD-boxes"""	20082	20082	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_175066	NM_175066		Approved		uc001ujy.4	uc001ujy.4	Q8N8A6	Q8N8A6			ENST00000397333.3:c.1674-1G>A	12.37:g.132624744C>T				p.L558L	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	12	1712	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	558	Helicase C-terminal.	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Splice_Site	SNP	ENST00000397333.3	37	c.1674G>A	CCDS41865.1																																																																																									0.692	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1		53.639605	-3	-3	38	38	NM_175066	Silent	18	53.639605	53.639605	18	0.500000	0	0	0	1	0	18	18	0.5
C14orf166	51637	broad.mit.edu	37	14	52471211	52471211	+	Silent	SNP	A	A	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr14:52471211A>C	ENST00000261700.3	+	8	877	c.712A>C	c.(712-714)Aga>Cga	p.R238R	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	238					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					GACAGACCACAGACTGGGAAA	0.438																																						ENST00000261700.3											0			endometrium(1)|large_intestine(3)|lung(2)	6						c.(712-714)Aga>Cga	chromosome 14 open reading frame 166						78.0	81.0	80.0					14																	52471211		2202	4300	6502	SO:0001819	synonymous_variant	51637				microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding	g.chr14:52471211A>C	AF151857	AF151857	CCDS9705.1	CCDS9705.1	14q22.1	2014-05-29			2014-05-29			ENSG00000087302	ENSG00000087302	ENSG00000087302	ENSG00000087302				23169	23169	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	"""RLL motif containing 1"""	610858	610858						10810093, 24608264	10810093, 24608264	Standard	Standard	NM_016039	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	uc010aod.3	Q9Y224	Q9Y224	OTTHUMG00000152332	OTTHUMG00000152332	ENST00000261700.3:c.712A>C	14.37:g.52471211A>C			C14orf166_ENST00000556760.1_3'UTR	p.R238R	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN			8	877	+	Breast(41;0.0639)|all_epithelial(31;0.101)		238			Silent	SNP	ENST00000261700.3	37	c.712A>C	CCDS9705.1																																																																																									0.438	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1		22.991266	-11	-11	40	40	NM_016039		8	23.71088	23.710880	17	0.320000	0	0	0	1	0	8	17	0.32
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	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		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	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		27.335887	-3	-3	78	78	NM_002067		10	28.777847	28.777847	25	0.285714	0	0	0	1	0	10	25	0.285714
NME7	29922	broad.mit.edu	37	1	169256568	169256568	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr1:169256568T>C	ENST00000367811.3	-	7	983	c.727A>G	c.(727-729)Att>Gtt	p.I243V	NME7_ENST00000472647.1_Missense_Mutation_p.I207V|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	243					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GGTTTAACAATGCAACAGGTA	0.353																																						ENST00000367811.3											0			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(727-729)Att>Gtt	NME/NM23 family member 7						245.0	244.0	244.0					1																	169256568		2203	4300	6503	SO:0001583	missense	29922			CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169256568T>C	AF153191	AF153191	CCDS1277.1, CCDS44274.1	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156	ENSG00000143156	ENSG00000143156				20461	20461	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	"""cilia and flagella associated protein 67"""	613465	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""		"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	19852809	Standard	Standard	NM_197972	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	uc001gfu.3	Q9Y5B8	Q9Y5B8	OTTHUMG00000034586	OTTHUMG00000034586	ENST00000367811.3:c.727A>G	1.37:g.169256568T>C	ENSP00000356785:p.Ile243Val		NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.I207V	p.I243V	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			7	983	-	all_hematologic(923;0.208)		243		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.727A>G	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	T	6.385	0.439161	0.12104	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.58210	0.35;0.35	4.57	2.28	0.28536	4.57	2.28	0.28536	.	0.104565	0.64402	D	0.000005	T	0.13415	0.0325	L	0.28054	0.825	0.45205	D	0.998214	B;B	0.11235	0.004;0.002	B;B	0.17722	0.009;0.019	T	0.13683	-1.0500	9	0.02654	T	1	-19.4945	8.0999	0.30850	0.0:0.1608:0.0:0.8392	.	247;243	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	V	207;243	ENSP00000433341:I207V;ENSP00000356785:I243V	ENSP00000356785:I243V	I	-	1	0	0	NME7	167523192	167523192	1.000000	0.71417	0.924000	0.36721	0.535000	0.34838	2.845000	0.48254	1.697000	0.51169	0.519000	0.50382	ATT		0.353	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1		235.532098	-46	-46	209	209	NM_013330		74	235.956778	235.956778	92	0.445783	0	0	0	1	0	74	92	0.445783
SLC12A5	57468	broad.mit.edu	37	20	44672542	44672542	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr20:44672542C>T	ENST00000454036.2	+	11	1482	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A455V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	478					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGTTTGGGGCCTGCATTGAG	0.557																																						ENST00000243964.3											0			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1363-1365)gCc>gTc	solute carrier family 12 (potassium/chloride transporter), member 5						130.0	122.0	125.0					20																	44672542		2203	4300	6503	SO:0001583	missense	57468			potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44672542C>T	AB033002	AB033002	CCDS13391.1, CCDS46610.1	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140	ENSG00000124140	ENSG00000124140		"""Solute carriers"""	"""Solute carriers"""	13818	13818	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606726	606726								Standard	Standard	NM_020708	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	uc010zxl.1	Q9H2X9	Q9H2X9	OTTHUMG00000032638	OTTHUMG00000032638	ENST00000454036.2:c.1433C>T	20.37:g.44672542C>T	ENSP00000387694:p.Ala478Val		SLC12A5_ENST00000454036.2_Missense_Mutation_p.A478V	p.A455V	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN			11	1462	+		Myeloproliferative disorder(115;0.0122)	478		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1364C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282302	0.95489	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98567	-5.0;-5.0	3.96	3.96	0.45880	3.96	3.96	0.45880	Amino acid permease domain (1);	0.000000	0.64402	D	0.000001	D	0.98801	0.9596	M	0.87328	2.875	0.80722	D	1	D;P	0.56746	0.977;0.69	P;P	0.62560	0.904;0.508	D	0.99418	1.0932	10	0.87932	D	0	.	15.1198	0.72434	0.0:1.0:0.0:0.0	.	478;455	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	478;455	ENSP00000387694:A478V;ENSP00000243964:A455V	ENSP00000243964:A455V	A	+	2	0	0	SLC12A5	44105949	44105949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.580000	0.82523	2.183000	0.69458	0.655000	0.94253	GCC		0.557	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		86.629274	-43	-43	115	115			30	87.452133	87.452133	47	0.389610	0	0	0	1	0	30	47	0.38961
MS4A8	83661	broad.mit.edu	37	11	60468456	60468456	+	Silent	SNP	G	G	A	rs148869742		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr11:60468456G>A	ENST00000300226.2	+	2	326	c.123G>A	c.(121-123)ccG>ccA	p.P41P		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	41						integral component of membrane (GO:0016021)											ACAGCCAGCCGCAAGTCCACC	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18990	0.0		0.0	False		,,,				2504	0.0					ENST00000300226.2											0										c.(121-123)ccG>ccA	membrane-spanning 4-domains, subfamily A, member 8						113.0	105.0	107.0					11																	60468456		2203	4300	6503	SO:0001819	synonymous_variant	83661						g.chr11:60468456G>A	AF237905	AF237905	CCDS7990.1	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959	ENSG00000166959	ENSG00000166959				13380	13380	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606549	606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	11245982, 11401424	Standard	Standard	NM_031457	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	uc001npv.3	Q9BY19	Q9BY19	OTTHUMG00000167686	OTTHUMG00000167686	ENST00000300226.2:c.123G>A	11.37:g.60468456G>A				p.P41P	NM_031457.1	NP_113645.1					2	326	+					Q8TCA5	Silent	SNP	ENST00000300226.2	37	c.123G>A	CCDS7990.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.026	0.002253	0.07819	.	.	ENSG00000166959	ENST00000525458	.	.	.	3.74	-4.38	0.03622	3.74	-4.38	0.03622	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.27720	N	0.945149	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	-8.8858	1.9656	0.03395	0.1446:0.2097:0.1428:0.5028	.	.	.	.	H	23	.	.	R	+	2	0	0	MS4A8B	60225032	60225032	0.242000	0.23868	0.351000	0.25721	0.005000	0.04900	-1.613000	0.02059	-0.870000	0.04047	-2.477000	0.00200	CGC		0.532	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		74.663274	-36	-36	71	71			25	75.170734	75.170734	37	0.403226	0	0	0	1	0	25	37	0.403226
MDN1	23195	ucsc.edu	37	6	90486405	90486405	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr6:90486405A>G	ENST00000369393.3	-	12	1850	c.1735T>C	c.(1735-1737)Tgt>Cgt	p.C579R	MDN1_ENST00000428876.1_Missense_Mutation_p.C579R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	579					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTGTGAAACAGTCTAGAGCC	0.343																																																	0																	115.0	107.0	110.0					6																	90486405		2202	4299	6501	SO:0001583	missense	23195							AF503925	AF503925	CCDS5024.1	CCDS5024.1	6q15	2014-01-28			2014-01-28			ENSG00000112159	ENSG00000112159	ENSG00000112159	ENSG00000112159				18302	18302	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										9205841, 12102729	9205841, 12102729	Standard	Standard	XM_005248699	XM_005248699		Approved	KIAA0301	uc003pnn.1	uc003pnn.1	Q9NU22	Q9NU22	OTTHUMG00000015213	OTTHUMG00000015213	ENST00000369393.3:c.1735T>C	6.37:g.90486405A>G	ENSP00000358400:p.Cys579Arg																	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37		CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822644	0.50739	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.38560	1.13;1.13;1.13	5.07	5.07	0.68467	5.07	5.07	0.68467	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.80616	2.505	0.80722	D	1	B	0.29571	0.249	B	0.34452	0.183	T	0.47535	-0.9110	10	0.62326	D	0.03	.	14.499	0.67709	1.0:0.0:0.0:0.0	.	579	Q9NU22	MDN1_HUMAN	R	579;579;506	ENSP00000358400:C579R;ENSP00000413970:C579R;ENSP00000409664:C506R	ENSP00000358400:C579R	C	-	1	0	0	MDN1	90543126	90543126	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.949000	0.87791	1.922000	0.55676	0.460000	0.39030	TGT		0.343	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			-20	-20	55	55			4			22							4	22	
BAP1	8314	broad.mit.edu	37	3	52437840	52437840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr3:52437840G>A	ENST00000460680.1	-	13	1792	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q423*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTGTTGGGCTGCAGCACTGAC	0.567			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1321-1323)Cag>Tag	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						98.0	100.0	100.0					3																	52437840		2203	4300	6503	SO:0001587	stop_gained	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437840G>A	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1321C>T	3.37:g.52437840G>A	ENSP00000417132:p.Gln441*		BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q423*	p.Q441*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1792	-			441		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	c.1321C>T	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230853	0.58777	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	6.05	6.05	0.98169	6.05	6.05	0.98169	.	0.183612	0.39341	N	0.001389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.7892	0.91966	0.0:0.0:1.0:0.0	.	.	.	.	X	441;423	.	ENSP00000296288:Q423X	Q	-	1	0	0	BAP1	52412880	52412880	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.561000	0.67339	2.880000	0.98712	0.655000	0.94253	CAG		0.567	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		89.546238	-16	-16	58	58			27	94.339159	94.339159	3	0.900000	0	0	0	1	0	27	3	0.9
ZDHHC23	254887	broad.mit.edu	37	3	113675265	113675265	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr3:113675265G>C	ENST00000330212.3	+	4	1251	c.952G>C	c.(952-954)Ggg>Cgg	p.G318R	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G312R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	318					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CTCGGTGTATGGGATCACACT	0.418																																						ENST00000330212.3											0			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						c.(952-954)Ggg>Cgg	zinc finger, DHHC-type containing 23						226.0	209.0	215.0					3																	113675265		2203	4300	6503	SO:0001583	missense	254887				integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113675265G>C	AK127025	AK127025	CCDS33827.1	CCDS33827.1	3q13.31	2008-05-02			2008-05-02			ENSG00000184307	ENSG00000184307	ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	"""Zinc fingers, DHHC-type"""	28654	28654	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_173570	NM_173570		Approved	MGC42530	uc003eau.3	uc003eau.3	Q8IYP9	Q8IYP9	OTTHUMG00000159335	OTTHUMG00000159335	ENST00000330212.3:c.952G>C	3.37:g.113675265G>C	ENSP00000330485:p.Gly318Arg		ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G312R	p.G318R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN			4	1251	+			318		D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.952G>C	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920097	0.92249	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.24908	1.83;1.83	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55062	-0.8199	10	0.51188	T	0.08	-1.5266	19.5775	0.95450	0.0:0.0:1.0:0.0	.	318	Q8IYP9	ZDH23_HUMAN	R	318;312	ENSP00000330485:G318R;ENSP00000417840:G312R	ENSP00000330485:G318R	G	+	1	0	0	ZDHHC23	115157955	115157955	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	9.209000	0.95087	2.634000	0.89283	0.650000	0.86243	GGG		0.418	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1		117.552074	-16	-16	103	103	NM_173570		35	123.689485	123.689485	4	0.897436	0	0	0	1	0	35	4	0.897436
ARSB	411	broad.mit.edu	37	5	78260295	78260295	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr5:78260295T>C	ENST00000264914.4	-	3	1170	c.634A>G	c.(634-636)Aca>Gca	p.T212A	ARSB_ENST00000565165.1_Missense_Mutation_p.T212A|ARSB_ENST00000396151.3_Missense_Mutation_p.T212A	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	212					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AATATGTTTGTTGAATACATA	0.373																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(634-636)Aca>Gca	arylsulfatase B						85.0	82.0	83.0					5																	78260295		2203	4300	6503	SO:0001583	missense	411			lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78260295T>C	M32373	M32373	CCDS4043.1, CCDS43334.1	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			2013-02-14			ENSG00000113273	ENSG00000113273	ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	"""Arylsulfatase family"""	714	714	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611542	611542						2303452	2303452	Standard	Standard	NM_000046	NM_000046		Approved		uc003kfq.3	uc003kfq.3	P15848	P15848	OTTHUMG00000108129	OTTHUMG00000108129	ENST00000264914.4:c.634A>G	5.37:g.78260295T>C	ENSP00000264914:p.Thr212Ala		ARSB_ENST00000396151.3_Missense_Mutation_p.T212A|ARSB_ENST00000565165.1_Missense_Mutation_p.T212A	p.T212A	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	3	1170	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	212		B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.634A>G	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504696	0.44558	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98747	-5.11;-5.11	5.36	2.98	0.34508	5.36	2.98	0.34508	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.73962	2.25	0.54753	D	0.999987	B;B	0.31949	0.049;0.348	B;B	0.41691	0.029;0.364	D	0.96020	0.9008	10	0.48119	T	0.1	.	9.8251	0.40908	0.0:0.1289:0.0:0.8711	.	212;212	Q8N322;P15848	.;ARSB_HUMAN	A	212	ENSP00000264914:T212A;ENSP00000379455:T212A	ENSP00000264914:T212A	T	-	1	0	0	ARSB	78296051	78296051	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	1.851000	0.39338	0.437000	0.26423	0.528000	0.53228	ACA		0.373	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2		65.826906	-20	-20	46	46	NM_000046		19	65.832806	65.832806	18	0.513514	0	0	0	1	0	19	18	0.513514
MACF1	23499	broad.mit.edu	37	1	39798840	39798840	+	Missense_Mutation	SNP	C	C	G	rs551439838		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr1:39798840C>G	ENST00000372915.3	+	36	6682	c.6595C>G	c.(6595-6597)Ccc>Gcc	p.P2199A	MACF1_ENST00000567887.1_Missense_Mutation_p.P2231A|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.P2194A|MACF1_ENST00000289893.4_Missense_Mutation_p.P634A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2199					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCACATAAAACCCCAAAGCAA	0.358																																						ENST00000564288.1											0			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6580-6582)Ccc>Gcc	microtubule-actin crosslinking factor 1						42.0	46.0	45.0					1																	39798840		2203	4300	6503	SO:0001583	missense	23499			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798840C>G	AB007934	AB007934	CCDS435.1	CCDS435.1	1p32-p31	2013-01-10			2013-01-10			ENSG00000127603	ENSG00000127603	ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	"""EF-hand domain containing"""	13664	13664	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271	608271						7635207, 10529403	7635207, 10529403	Standard	Standard	NM_012090	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	uc031pmc.1	Q9UPN3	Q9UPN3	OTTHUMG00000007754	OTTHUMG00000007754	ENST00000372915.3:c.6595C>G	1.37:g.39798840C>G	ENSP00000362006:p.Pro2199Ala		MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P634A|MACF1_ENST00000372915.3_Missense_Mutation_p.P2199A|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2231A|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron	p.P2194A			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7357	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2199		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6580C>G		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808856	0.00606	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60040	0.22;1.29	5.92	-0.709	0.11237	5.92	-0.709	0.11237	.	1.839560	0.02323	N	0.073199	T	0.34221	0.0890	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17379	-1.0371	10	0.02654	T	1	.	2.122	0.03728	0.1958:0.1887:0.1148:0.5008	.	2199	Q9UPN3	MACF1_HUMAN	A	2199;634	ENSP00000362006:P2199A;ENSP00000289893:P634A	ENSP00000289893:P634A	P	+	1	0	0	MACF1	39571427	39571427	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.794000	0.04584	-0.151000	0.11176	0.467000	0.42956	CCC		0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		59.546777	-5	-5	47	47	NM_033044		18	59.596975	59.596975	21	0.461538	0	0	0	1	0	18	21	0.461538
FAM171A1	221061	broad.mit.edu	37	10	15263054	15263054	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr10:15263054A>G	ENST00000378116.4	-	6	766	c.760T>C	c.(760-762)Tgg>Cgg	p.W254R	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	254						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCTTCAGCCACGTTCCTGTG	0.507																																						ENST00000378116.4											0			breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(760-762)Tgg>Cgg	family with sequence similarity 171, member A1						78.0	67.0	71.0					10																	15263054		2203	4300	6503	SO:0001583	missense	221061				integral to membrane		g.chr10:15263054A>G	AK022946	AK022946	CCDS31154.1	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468	ENSG00000148468	ENSG00000148468				23522	23522	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 10 open reading frame 38"""	C10orf38	"""chromosome 10 open reading frame 38"""	C10orf38				Standard	Standard	NM_001010924	NM_001010924		Approved	FLJ12884	uc001iob.3	uc001iob.3	Q5VUB5	Q5VUB5	OTTHUMG00000017732	OTTHUMG00000017732	ENST00000378116.4:c.760T>C	10.37:g.15263054A>G	ENSP00000367356:p.Trp254Arg		FAM171A1_ENST00000477161.1_5'UTR	p.W254R	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			6	766	-			254		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.760T>C	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039878	0.55003	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.62788	-0.0	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81008	-0.1127	10	0.87932	D	0	-16.1467	16.1199	0.81342	1.0:0.0:0.0:0.0	.	254	Q5VUB5	F1711_HUMAN	R	254;255	ENSP00000367356:W254R	ENSP00000367356:W254R	W	-	1	0	0	FAM171A1	15303060	15303060	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	8.962000	0.93254	2.194000	0.70268	0.533000	0.62120	TGG		0.507	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		39.267063	-26	-26	25	25	XM_167709		13	39.679683	39.679683	21	0.382353	0	0	0	1	0	13	21	0.382353
TTLL4	9654	broad.mit.edu	37	2	219603802	219603802	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr2:219603802G>A	ENST00000392102.1	+	3	1743	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	TTLL4_ENST00000442769.1_Missense_Mutation_p.R468H|TTLL4_ENST00000457313.1_Missense_Mutation_p.R303H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R468H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	468					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.R468H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTGGCCACCCGCCTCTCTTCC	0.532																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1											1	Substitution - Missense(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1402-1404)cGc>cAc	tubulin tyrosine ligase-like family, member 4						47.0	49.0	48.0					2																	219603802		2203	4299	6502	SO:0001583	missense	9654			protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603802G>A			CCDS2422.1	CCDS2422.1	2p24.3-p24.1	2013-02-14			2013-02-14			ENSG00000135912	ENSG00000135912	ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	"""Tubulin tyrosine ligase-like family"""	28976	28976	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11054573	11054573	Standard	Standard	NM_014640	NM_014640		Approved	KIAA0173	uc002viy.3	uc002viy.3	Q14679	Q14679	OTTHUMG00000133081	OTTHUMG00000133081	ENST00000392102.1:c.1403G>A	2.37:g.219603802G>A	ENSP00000375951:p.Arg468His		TTLL4_ENST00000457313.1_Missense_Mutation_p.R303H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R468H|TTLL4_ENST00000442769.1_Missense_Mutation_p.R468H	p.R468H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	1743	+		Renal(207;0.0915)	468		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1403G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	8.351	0.830869	0.16820	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05382	3.68;3.89;3.45;3.89	4.67	-0.845	0.10737	4.67	-0.845	0.10737	.	2.277970	0.01694	N	0.026803	T	0.07143	0.0181	L	0.34521	1.04	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.009	B;B;B	0.06405	0.002;0.002;0.002	T	0.42050	-0.9474	10	0.48119	T	0.1	.	9.5462	0.39282	0.6821:0.0:0.3179:0.0	.	303;468;468	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	H	303;468;468;468	ENSP00000393332:R303H;ENSP00000375951:R468H;ENSP00000396555:R468H;ENSP00000258398:R468H	ENSP00000258398:R468H	R	+	2	0	0	TTLL4	219312046	219312046	0.000000	0.05858	0.187000	0.23214	0.642000	0.38348	0.045000	0.14013	-0.390000	0.07774	-0.367000	0.07326	CGC		0.532	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1		74.704393	-25	-25	34	34	NM_014640		24	75.053987	75.053987	16	0.600000	0	0	0	1	0	24	16	0.6
LRP1	4035	ucsc.edu	37	12	57577629	57577629	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr12:57577629C>A	ENST00000243077.3	+	36	6332	c.5866C>A	c.(5866-5868)Cgt>Agt	p.R1956S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1956					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAGACGTGGCGTGAAGACGT	0.612																																																	0																	106.0	95.0	98.0					12																	57577629		2203	4300	6503	SO:0001583	missense	4035							X13916	X13916	CCDS8932.1	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	"""CD molecules"", ""Low density lipoprotein receptors"""	6692	6692	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			107770	107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	2548950	Standard	Standard	NM_002332	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	uc001snd.3	Q07954	Q07954	OTTHUMG00000044412	OTTHUMG00000044412	ENST00000243077.3:c.5866C>A	12.37:g.57577629C>A	ENSP00000243077:p.Arg1956Ser																	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37		CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242262	0.58995	.	.	ENSG00000123384	ENST00000243077	D	0.91180	-2.8	4.94	4.03	0.46877	4.94	4.03	0.46877	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000004	D	0.91476	0.7309	L	0.43598	1.365	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	D	0.87991	0.2749	10	0.14252	T	0.57	.	11.8504	0.52407	0.3158:0.6842:0.0:0.0	.	1956	Q07954	LRP1_HUMAN	S	1956	ENSP00000243077:R1956S	ENSP00000243077:R1956S	R	+	1	0	0	LRP1	55863896	55863896	0.995000	0.38212	0.968000	0.41197	0.820000	0.46376	0.407000	0.21049	1.254000	0.44035	0.561000	0.74099	CGT		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2			-34	-34	34	34	NM_002332		4			37							4	37	
PRR35	146325	broad.mit.edu	37	16	613805	613806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr16:613805_613806insG	ENST00000409413.3	+	2	790_791	c.511_512insG	c.(511-513)aggfs	p.R171fs		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		171	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGGGACCCAAGGGGCGTGGGT	0.738																																						ENST00000409413.3											0			central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(511-513)aggfs	chromosome 16 open reading frame 11																																			SO:0001589	frameshift_variant	146325						g.chr16:613805_613806insG																																																	ENST00000409413.3:c.515dupG	16.37:g.613809_613809dupG	ENSP00000386499:p.Arg171fs			p.R171fs	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			2	790_791	+			171	Pro-rich.	B8ZZ27|Q8N233|Q96AX3|Q96S23	Frame_Shift_Ins	INS	ENST00000409413.3	37	c.511_512insG	CCDS45365.1																																																																																									0.738	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1	.	.	-2	-2	7	7			2			4	0.33						2	4	0.33
C14orf166	51637	broad.mit.edu	37	14	52471216	52471217	+	In_Frame_Ins	INS	-	-	ACT			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr14:52471216_52471217insACT	ENST00000261700.3	+	8	882_883	c.717_718insACT	c.(718-720)gga>ACTgga	p.239_240insT	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	239					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)	p.L239L(1)		endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					ACCACAGACTGGGAAAAGTTGG	0.436																																						ENST00000261700.3											1	Substitution - coding silent(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(2)	6						c.(718-720)gga>ACTgga	chromosome 14 open reading frame 166																																			SO:0001652	inframe_insertion	51637				microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding	g.chr14:52471216_52471217insACT	AF151857	AF151857	CCDS9705.1	CCDS9705.1	14q22.1	2014-05-29			2014-05-29			ENSG00000087302	ENSG00000087302	ENSG00000087302	ENSG00000087302				23169	23169	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	"""RLL motif containing 1"""	610858	610858						10810093, 24608264	10810093, 24608264	Standard	Standard	NM_016039	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	uc010aod.3	Q9Y224	Q9Y224	OTTHUMG00000152332	OTTHUMG00000152332	Exception_encountered	14.37:g.52471216_52471217insACT	ENSP00000261700:p.Leu239_Gly240insThr		C14orf166_ENST00000556760.1_3'UTR	p.239_240insT	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN			8	882_883	+	Breast(41;0.0639)|all_epithelial(31;0.101)		239			In_Frame_Ins	INS	ENST00000261700.3	37	c.717_718insACT	CCDS9705.1																																																																																									0.436	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	.	.	-7	-7	42	42	NM_016039		10			18	0.36						10	18	0.36
GIGYF2	26058	broad.mit.edu	37	2	233697734	233697736	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr2:233697734_233697736delGCA	ENST00000409547.1	+	24	3008_3010	c.2697_2699delGCA	c.(2695-2700)aggcag>agg	p.Q903del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q924del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q925del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q897del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q734del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q903del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q925del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	903	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGCGCCAGAGGCAGCAGCAGCAA	0.586																																						ENST00000373566.3											0			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2761-2766)aggcag>agg	GRB10 interacting GYF protein 2		,,,	22,4150		0,22,2064					,,,	5.4	1.0			16	44,8060		1,42,4009	no	coding,coding,coding,coding	GIGYF2	NM_015575.3,NM_001103148.1,NM_001103147.1,NM_001103146.1	,,,	1,64,6073	A1A1,A1R,RR		0.5429,0.5273,0.5376	,,,	,,,		66,12210				SO:0001651	inframe_deletion	26058			cell death		protein binding	g.chr2:233697734_233697736delGCA	U80751	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	"""Trinucleotide (CAG) repeat containing"""	11960	11960	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	"""GYF domain containing 2"""	612003	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	9225980, 9734811, 12771153, 18358451, 19279319	Standard	Standard	NM_015575	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	uc002vtk.4	Q6Y7W6	Q6Y7W6	OTTHUMG00000153237	OTTHUMG00000153237	ENST00000409547.1:c.2697_2699delGCA	2.37:g.233697743_233697745delGCA	ENSP00000386537:p.Gln903del		GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q924del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q897del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q925del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q903del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q734del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q903del	p.Q925del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	23	2960_2962	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	903	Gln-rich.	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2763_2765delGCA	CCDS33401.1																																																																																									0.586	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	.	.	8	8	11	11	NM_001103146		2			4	0.33						2	4	0.33
