#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
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		105.765010	6	6	118	118	NM_002072		33	106.107274	106.107274	44	0.428571	0	0	0	1	0	33	44	0.428571
APMAP	57136	broad.mit.edu	37	20	24952175	24952175	+	Silent	SNP	C	C	T			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr20:24952175C>T	ENST00000217456.2	-	5	749	c.459G>A	c.(457-459)ctG>ctA	p.L153L	RNU6-1257P_ENST00000384625.1_RNA|APMAP_ENST00000447138.1_Silent_p.L153L	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	153					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										CACGGATACCCAGGGGTCTCC	0.488																																						ENST00000217456.2											0										c.(457-459)ctG>ctA	adipocyte plasma membrane associated protein						94.0	96.0	95.0					20																	24952175		2203	4300	6503	SO:0001819	synonymous_variant	57136						g.chr20:24952175C>T	AB033767	AB033767	CCDS13166.1	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474	ENSG00000101474	ENSG00000101474				13238	13238	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615884	615884	"""chromosome 20 open reading frame 3"""	C20orf3	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	10945474, 11583587, 20552250	Standard	Standard	NM_020531	NM_020531		Approved	BSCv	uc002wty.3	uc002wty.3	Q9HDC9	Q9HDC9	OTTHUMG00000032107	OTTHUMG00000032107	ENST00000217456.2:c.459G>A	20.37:g.24952175C>T			APMAP_ENST00000447138.1_Silent_p.L153L	p.L153L	NM_020531.2	NP_065392.1					5	749	-					A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Silent	SNP	ENST00000217456.2	37	c.459G>A	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287554	0.23478	.	.	ENSG00000101474	ENST00000451442	.	.	.	5.47	2.15	0.27550	5.47	2.15	0.27550	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9306	5.5048	0.16848	0.4281:0.4737:0.0:0.0981	.	.	.	.	X	138	.	.	W	-	2	0	0	C20orf3	24900175	24900175	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.218000	0.32467	0.646000	0.30693	0.561000	0.74099	TGG		0.488	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2		-6.453858	11	11	102	102	NM_020531		4	9.054166	9.054166	70	0.054054	0	0	0	1	0	4	70	0.054054
PKP4	8502	broad.mit.edu	37	2	159499162	159499162	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr2:159499162G>C	ENST00000389759.3	+	11	1972	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	PKP4_ENST00000389757.3_Missense_Mutation_p.L620F	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	620					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CTGCCTTGTTGCGACTGTTGA	0.413										HNSCC(62;0.18)																												ENST00000389757.3											0			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(1858-1860)ttG>ttC	plakophilin 4						160.0	161.0	161.0					2																	159499162		2203	4300	6503	SO:0001583	missense	8502			cell adhesion	desmosome	protein binding	g.chr2:159499162G>C	X81889	X81889	CCDS33305.1, CCDS33306.1	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			2013-02-14			ENSG00000144283	ENSG00000144283	ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	"""Armadillo repeat containing"""	9026	9026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604276	604276						9342840, 8937994	9342840, 8937994	Standard	Standard	NM_003628	NM_003628		Approved	p0071	uc002tzv.3	uc002tzv.3	Q99569	Q99569	OTTHUMG00000153969	OTTHUMG00000153969	ENST00000389759.3:c.1860G>C	2.37:g.159499162G>C	ENSP00000374409:p.Leu620Phe		PKP4_ENST00000389759.3_Missense_Mutation_p.L620F	p.L620F	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			11	1985	+			620		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.1860G>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663943	0.47572	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.71817	-0.6;-0.6	5.87	4.07	0.47477	5.87	4.07	0.47477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80518	0.4638	M	0.74881	2.28	0.52501	D	0.999951	D;D;D;B;D	0.76494	0.999;0.999;0.999;0.218;0.999	D;D;D;B;D	0.81914	0.995;0.988;0.968;0.211;0.989	T	0.80013	-0.1560	10	0.48119	T	0.1	-5.9841	8.015	0.30376	0.3289:0.0:0.6711:0.0	.	472;575;620;620;471	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	F	471;620;620	ENSP00000374407:L620F;ENSP00000374409:L620F	ENSP00000374407:L620F	L	+	3	2	2	PKP4	159207408	159207408	0.561000	0.26578	1.000000	0.80357	0.988000	0.76386	0.093000	0.15086	1.478000	0.48253	0.655000	0.94253	TTG		0.413	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		-8.234492	9	9	99	99			3	6.61391	6.613910	64	0.044776	0	0	0	1	0	3	64	0.044776
PITPNM2	57605	broad.mit.edu	37	12	123476344	123476344	+	Intron	SNP	C	C	T			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr12:123476344C>T	ENST00000542749.1	-	14	2468				PITPNM2_ENST00000320201.4_Intron|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.A836T			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2						metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAGGTGGGCGCGGGAACAGGC	0.682																																						ENST00000280562.5											0			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2506-2508)Gcg>Acg	phosphatidylinositol transfer protein, membrane-associated 2						19.0	19.0	19.0					12																	123476344		875	1990	2865	SO:0001627	intron_variant	57605			metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123476344C>T	AF334585	AF334585	CCDS9242.1, CCDS73543.1	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05			2008-02-05				ENSG00000090975		ENSG00000090975				21044	21044	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608920	608920						10022914	10022914	Standard	Standard	XM_005253582	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	uc001uej.1	Q9BZ72	Q9BZ72			ENST00000542749.1:c.2404+701G>A	12.37:g.123476344C>T			PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000542749.1_Intron|PITPNM2_ENST00000320201.4_Intron	p.A836T			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	16	2711	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		812	DDHD.	Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2506G>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	9.553	1.116365	0.20795	.	.	ENSG00000090975	ENST00000280562	T	0.35605	1.3	5.26	3.43	0.39272	5.26	3.43	0.39272	.	.	.	.	.	T	0.21674	0.0522	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.04752	-1.0929	8	0.14252	T	0.57	.	9.9923	0.41879	0.0:0.7798:0.0:0.2202	.	836	Q9BZ72-2	.	T	836	ENSP00000280562:A836T	ENSP00000280562:A836T	A	-	1	0	0	PITPNM2	122042297	122042297	0.998000	0.40836	0.994000	0.49952	0.965000	0.64279	1.734000	0.38166	0.599000	0.29845	0.542000	0.68232	GCG		0.682	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1		22.802300	6	6	28	28	NM_020845		8	23.060506	23.060506	13	0.380952	0	0	0	1	0	8	13	0.380952
GNB1	2782	broad.mit.edu	37	1	1718829	1718829	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr1:1718829C>G	ENST00000378609.4	-	11	1295	c.964G>C	c.(964-966)Gac>Cac	p.D322H		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	322					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		ATGCCATCGTCAGTCACGCCC	0.567																																						ENST00000378609.4											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(964-966)Gac>Cac	guanine nucleotide binding protein (G protein), beta polypeptide 1						108.0	95.0	100.0					1																	1718829		2203	4300	6503	SO:0001583	missense	2782			cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1718829C>G	BC004186	BC004186	CCDS34.1, CCDS72685.1	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			2013-01-10			ENSG00000078369	ENSG00000078369	ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	"""WD repeat domain containing"""	4396	4396	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139380	139380								Standard	Standard	NM_002074	NM_002074		Approved		uc001aif.3	uc001aif.3	P62873	P62873	OTTHUMG00000000940	OTTHUMG00000000940	ENST00000378609.4:c.964G>C	1.37:g.1718829C>G	ENSP00000367872:p.Asp322His			p.D322H	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	11	1295	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	322		B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.964G>C	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485217	0.84854	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	T	0.60040	0.22	5.74	4.84	0.62591	5.74	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045379	0.85682	D	0.000000	T	0.53722	0.1814	N	0.20401	0.57	0.80722	D	1	P	0.39443	0.674	P	0.48552	0.581	T	0.59815	-0.7383	10	0.72032	D	0.01	-20.8821	13.7624	0.62975	0.0:0.9266:0.0:0.0734	.	322	P62873	GBB1_HUMAN	H	322;222;322	ENSP00000367872:D322H	ENSP00000367869:D322H	D	-	1	0	0	GNB1	1708689	1708689	1.000000	0.71417	0.397000	0.26308	0.892000	0.51952	7.600000	0.82769	1.444000	0.47605	0.561000	0.74099	GAC		0.567	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		38.661183	-1	-1	86	86	NM_002074		13	39.748205	39.748205	27	0.325000	0	0	0	1	0	13	27	0.325
TRIM67	440730	broad.mit.edu	37	1	231299743	231299743	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr1:231299743T>C	ENST00000366653.5	+	1	1028	c.1028T>C	c.(1027-1029)aTg>aCg	p.M343T	TRIM67_ENST00000444294.3_Missense_Mutation_p.M343T|TRIM67_ENST00000449018.3_Missense_Mutation_p.M281T|TRIM67_ENST00000366652.2_Missense_Mutation_p.M343T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	343					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTGGGGGCCATGTGGAAGCAG	0.627																																						ENST00000444294.3											0			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1027-1029)aTg>aCg	tripartite motif containing 67						13.0	15.0	15.0					1																	231299743		2043	4186	6229	SO:0001583	missense	440730				cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231299743T>C	AK126782	AK126782	CCDS44333.1, CCDS73048.1	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283	ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	31859	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610584	610584	"""tripartite motif-containing 67"""		"""tripartite motif-containing 67"""					Standard	Standard	NM_001004342	NM_001004342		Approved	TNL	uc009xfn.1	uc009xfn.1	Q6ZTA4	Q6ZTA4	OTTHUMG00000037958	OTTHUMG00000037958	ENST00000366653.5:c.1028T>C	1.37:g.231299743T>C	ENSP00000355613:p.Met343Thr		TRIM67_ENST00000449018.3_Missense_Mutation_p.M281T|TRIM67_ENST00000366652.2_Missense_Mutation_p.M343T|TRIM67_ENST00000366653.5_Missense_Mutation_p.M343T	p.M343T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	1886	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	343		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1028T>C	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.724198	0.30593	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.72	3.61	0.41365	4.72	3.61	0.41365	.	0.277517	0.42420	N	0.000720	T	0.41119	0.1145	L	0.45581	1.43	0.42088	D	0.991287	B	0.25563	0.129	B	0.23419	0.046	T	0.19031	-1.0318	10	0.24483	T	0.36	.	7.9114	0.29793	0.0:0.1096:0.0:0.8904	.	343	Q6ZTA4	TRI67_HUMAN	T	343;343;281;343	ENSP00000412124:M343T;ENSP00000355612:M343T;ENSP00000400163:M281T;ENSP00000355613:M343T	ENSP00000355612:M343T	M	+	2	0	0	TRIM67	229366366	229366366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.499000	0.60380	0.846000	0.35142	0.459000	0.35465	ATG		0.627	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3		7.720212	0	0	14	14	NM_001004342		3	8.232311	8.232311	8	0.272727	0	0	0	1	0	3	8	0.272727
BAP1	8314	hgsc.bcm.edu	37	3	52437791	52437791	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr3:52437791T>C	ENST00000460680.1	-	13	1841	c.1370A>G	c.(1369-1371)aAg>aGg	p.K457R	BAP1_ENST00000296288.5_Missense_Mutation_p.K439R	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)		TGAGAGGTCCTTCTGGGACTC	0.597			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0																	76.0	78.0	77.0					3																	52437791		2203	4300	6503	SO:0001583	missense	8314							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.1370A>G	3.37:g.52437791T>C	ENSP00000417132:p.Lys457Arg																	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37		CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986900	0.35036	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61158	0.17;0.13	6.05	6.05	0.98169	6.05	6.05	0.98169	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.152572	0.64402	D	0.000015	T	0.38585	0.1046	N	0.12182	0.205	0.48341	D	0.999633	B	0.21753	0.06	B	0.17433	0.018	T	0.27434	-1.0074	10	0.38643	T	0.18	.	10.8637	0.46842	0.0:0.0697:0.0:0.9303	.	457	Q92560	BAP1_HUMAN	R	457;439	ENSP00000417132:K457R;ENSP00000296288:K439R	ENSP00000296288:K439R	K	-	2	0	0	BAP1	52412831	52412831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.355000	0.52262	2.323000	0.78572	0.533000	0.62120	AAG		0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-7	-7	49	49			20			3							20	3	
TNIP1	10318	broad.mit.edu	37	5	150411884	150411884	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr5:150411884C>G	ENST00000389378.2	-	17	2428	c.1840G>C	c.(1840-1842)Gtg>Ctg	p.V614L	TNIP1_ENST00000523200.1_Missense_Mutation_p.V550L|TNIP1_ENST00000521591.1_Missense_Mutation_p.V614L|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000518977.1_Missense_Mutation_p.V614L|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000520931.1_Missense_Mutation_p.V561L|TNIP1_ENST00000522226.1_Missense_Mutation_p.V614L|TNIP1_ENST00000315050.7_Missense_Mutation_p.V614L|TNIP1_ENST00000523338.1_Missense_Mutation_p.V614L	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	614	Pro-rich.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCCATCACTTGGGAGCTC	0.517																																						ENST00000389378.2											0			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1840-1842)Gtg>Ctg	TNFAIP3 interacting protein 1						99.0	92.0	94.0					5																	150411884		2203	4300	6503	SO:0001583	missense	10318			defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150411884C>G	AJ011895	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18			2008-07-18										16903	16903	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714	607714						9923610, 11090181	9923610, 11090181	Standard	Standard	NM_001252385	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	uc003ltj.3	Q15025	Q15025			ENST00000389378.2:c.1840G>C	5.37:g.150411884C>G	ENSP00000374029:p.Val614Leu		TNIP1_ENST00000520931.1_Missense_Mutation_p.V561L|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000315050.7_Missense_Mutation_p.V614L|TNIP1_ENST00000522226.1_Missense_Mutation_p.V614L|TNIP1_ENST00000518977.1_Missense_Mutation_p.V614L|TNIP1_ENST00000523200.1_Missense_Mutation_p.V550L|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000521591.1_Missense_Mutation_p.V614L|TNIP1_ENST00000523338.1_Missense_Mutation_p.V614L	p.V614L	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2428	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	614	Pro-rich.	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.1840G>C	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314889	0.40996	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000523200	T;T;T;T;T;T;T;T	0.15256	2.44;2.47;2.47;2.45;2.47;2.47;2.45;2.48	3.83	2.95	0.34219	3.83	2.95	0.34219	.	0.429335	0.23416	N	0.048402	T	0.21921	0.0528	M	0.63428	1.95	0.21064	N	0.999797	B;B;P;P	0.50443	0.122;0.122;0.849;0.935	B;B;P;P	0.48334	0.081;0.081;0.477;0.574	T	0.06285	-1.0835	10	0.38643	T	0.18	-18.1186	8.1111	0.30916	0.0:0.7433:0.1598:0.0969	.	504;550;614;614	A4F1X7;E7ET96;A4F1W9;Q15025	.;.;.;TNIP1_HUMAN	L	561;614;614;614;507;576;614;614;614;550	ENSP00000429891:V561L;ENSP00000374029:V614L;ENSP00000317891:V614L;ENSP00000428243:V614L;ENSP00000428187:V614L;ENSP00000430760:V614L;ENSP00000430971:V614L;ENSP00000431105:V550L	ENSP00000317891:V614L	V	-	1	0	0	TNIP1	150392077	150392077	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	1.468000	0.35332	0.589000	0.29677	-1.134000	0.01955	GTG		0.517	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1		46.449692	-14	-14	29	29	NM_006058		14	46.457141	46.457141	15	0.482759	0	0	0	1	0	14	15	0.482759
UBE2N	7334	broad.mit.edu	37	12	93804623	93804623	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr12:93804623C>T	ENST00000318066.2	-	3	682	c.305G>A	c.(304-306)cGc>cAc	p.R102H	UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000549833.1_Missense_Mutation_p.R39H|UBE2N_ENST00000552442.1_Intron	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	102					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|liver(2)|lung(5)	10						CAGAACTGTGCGGATCTGCAG	0.498								Direct reversal of damage;Rad6 pathway																													Pancreas(197;738 2228 30225 32034 33454)	ENST00000318066.2											0			endometrium(3)|liver(2)|lung(5)	10						c.(304-306)cGc>cAc	ubiquitin-conjugating enzyme E2N						112.0	98.0	103.0					12																	93804623		2203	4300	6503	SO:0001583	missense	7334			DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity	g.chr12:93804623C>T	D83004	D83004	CCDS31875.1	CCDS31875.1	12q22	2011-05-19	2011-05-19		2011-05-19	2011-05-19			ENSG00000177889		ENSG00000177889		"""Ubiquitin-conjugating enzymes E2"""	"""Ubiquitin-conjugating enzymes E2"""	12492	12492	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603679	603679	"""ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)"", ""ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"""		"""ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)"", ""ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"""			8902611	8902611	Standard	Standard	NM_003348	NM_003348		Approved	UbcH-ben, UBC13, MGC8489	uc001tcp.3	uc001tcp.3	P61088	P61088	OTTHUMG00000170156	OTTHUMG00000170156	ENST00000318066.2:c.305G>A	12.37:g.93804623C>T	ENSP00000316176:p.Arg102His		UBE2N_ENST00000549833.1_Missense_Mutation_p.R39H|UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000552442.1_Intron	p.R102H	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN			3	682	-			102		Q16781|Q53Y81	Missense_Mutation	SNP	ENST00000318066.2	37	c.305G>A	CCDS31875.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859080	0.71834	.	.	ENSG00000177889	ENST00000318066;ENST00000549833	T;T	0.38560	1.13;1.13	5.94	5.06	0.68205	5.94	5.06	0.68205	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	.	.	.	.	T	0.52853	0.1760	M	0.86953	2.85	0.80722	D	1	B	0.28082	0.2	B	0.31390	0.129	T	0.57694	-0.7767	9	0.56958	D	0.05	.	15.1265	0.72486	0.0:0.9325:0.0:0.0675	.	102	P61088	UBE2N_HUMAN	H	102;39	ENSP00000316176:R102H;ENSP00000450260:R39H	ENSP00000316176:R102H	R	-	2	0	0	UBE2N	92328754	92328754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.328000	0.79160	1.528000	0.49103	0.650000	0.86243	CGC		0.498	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407710.1		-9.433165	0	0	125	125	NM_003348		3	6.537237	6.537237	68	0.042254	0	0	0	1	0	3	68	0.042254
VSIG10	54621	ucsc.edu	37	12	118533585	118533585	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr12:118533585C>A	ENST00000359236.5	-	2	390	c.114G>T	c.(112-114)gaG>gaT	p.E38D	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	38	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GAGTAACATTCTCATGAACTT	0.483																																																	0																	49.0	54.0	52.0					12																	118533585		2041	4196	6237	SO:0001583	missense	54621									CCDS44992.1	CCDS44992.1	12q24.23	2013-01-29			2013-01-29			ENSG00000176834	ENSG00000176834	ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	26078	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_019086	NM_019086		Approved		uc001tws.3	uc001tws.3	Q8N0Z9	Q8N0Z9			ENST00000359236.5:c.114G>T	12.37:g.118533585C>A	ENSP00000352172:p.Glu38Asp																	Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37		CCDS44992.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237621	0.22711	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.22945	1.93;1.93	4.67	2.72	0.32119	4.67	2.72	0.32119	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.411595	0.18800	N	0.130807	T	0.20088	0.0483	L	0.39692	1.235	0.09310	N	1	B	0.18166	0.026	B	0.23275	0.045	T	0.18366	-1.0339	10	0.49607	T	0.09	-11.6077	7.5988	0.28065	0.0:0.6495:0.2568:0.0938	.	38	Q8N0Z9	VSI10_HUMAN	D	38	ENSP00000352172:E38D;ENSP00000442861:E38D	ENSP00000352172:E38D	E	-	3	2	2	VSIG10	117017968	117017968	0.015000	0.18098	0.067000	0.19924	0.908000	0.53690	-0.141000	0.10327	0.562000	0.29204	0.655000	0.94253	GAG		0.483	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2			-3	-3	22	22	NM_019086		4			14							4	14	
KCNV1	27012	broad.mit.edu	37	8	110984746	110984746	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr8:110984746G>C	ENST00000524391.1	-	3	1764	c.732C>G	c.(730-732)atC>atG	p.I244M	KCNV1_ENST00000297404.1_Missense_Mutation_p.I244M|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	244					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATACTCCAGGATTTCCAGCA	0.522																																						ENST00000524391.1											0			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(730-732)atC>atG	potassium channel, subfamily V, member 1						75.0	68.0	71.0					8																	110984746		2203	4300	6503	SO:0001583	missense	27012				voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984746G>C	AF167082	AF167082	CCDS6314.1	CCDS6314.1	8q23.2	2011-07-05			2011-07-05				ENSG00000164794		ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	18861	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608164	608164						8670833, 16382104	8670833, 16382104	Standard	Standard	NM_014379	NM_014379		Approved	Kv8.1	uc003ynr.4	uc003ynr.4	Q6PIU1	Q6PIU1			ENST00000524391.1:c.732C>G	8.37:g.110984746G>C	ENSP00000435954:p.Ile244Met		KCNV1_ENST00000297404.1_Missense_Mutation_p.I244M	p.I244M			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1764	-	all_neural(195;0.219)		244		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.732C>G	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485236	0.26598	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98792	-5.14;-5.14	5.55	2.75	0.32379	5.55	2.75	0.32379	Ion transport (1);	0.435059	0.23896	N	0.043493	D	0.96706	0.8925	L	0.49513	1.565	0.31001	N	0.720293	B	0.32425	0.371	B	0.39119	0.291	D	0.94230	0.7475	10	0.23302	T	0.38	.	8.0752	0.30712	0.3116:0.0:0.6884:0.0	.	244	Q6PIU1	KCNV1_HUMAN	M	244;244;120	ENSP00000435954:I244M;ENSP00000297404:I244M	ENSP00000297404:I244M	I	-	3	3	3	KCNV1	111053922	111053922	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.981000	0.29526	0.682000	0.31407	0.557000	0.71058	ATC		0.522	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1		64.332866	-19	-19	47	47	NM_014379		22	66.898657	66.898657	51	0.301370	0	0	0	1	0	22	51	0.30137
MYO1F	4542	broad.mit.edu	37	19	8620657	8620657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr19:8620657C>T	ENST00000338257.8	-	2	294	c.27G>A	c.(25-27)tgG>tgA	p.W9*		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	9					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGTGGCTCTGCCAGTGGAAGC	0.642																																						ENST00000338257.8											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(25-27)tgG>tgA	myosin IF						63.0	69.0	67.0					19																	8620657		2063	4203	6266	SO:0001587	stop_gained	4542				unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8620657C>T	X98411	X98411	CCDS42494.1	CCDS42494.1	19p13.3-p13.2	2011-09-27			2011-09-27			ENSG00000142347	ENSG00000142347	ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	"""Myosins / Myosin superfamily : Class I"""	7600	7600	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601480	601480						9119401, 8884266	9119401, 8884266	Standard	Standard	NM_012335	NM_012335		Approved		uc002mkg.3	uc002mkg.3	O00160	O00160	OTTHUMG00000156005	OTTHUMG00000156005	ENST00000338257.8:c.27G>A	19.37:g.8620657C>T	ENSP00000344871:p.Trp9*			p.W9*	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			2	294	-			9	Myosin head-like.	Q8WWN7	Nonsense_Mutation	SNP	ENST00000338257.8	37	c.27G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	37	6.115757	0.97296	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	.	.	.	3.98	3.98	0.46160	3.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8059	0.69956	0.0:1.0:0.0:0.0	.	.	.	.	X	54;9	.	ENSP00000304899:W54X	W	-	3	0	0	MYO1F	8526657	8526657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.393000	0.79851	2.059000	0.61396	0.455000	0.32223	TGG		0.642	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		1.510549	-17	-17	39	39			3	6.554616	6.554616	28	0.096774	0	0	0	1	0	3	28	0.096774
PRELID1P1	728666	broad.mit.edu	37	6	126965451	126965453	+	RNA	DEL	CCA	CCA	-			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr6:126965451_126965453delCCA	ENST00000567272.1	+	0	818_820									PRELI domain containing 1 pseudogene 1																		TGTAGCCAGCCCACCACCACCAC	0.552																																						ENST00000567272.1											0																																																0						g.chr6:126965451_126965453delCCA					6q22.32	2012-04-23			2012-04-23			ENSG00000217325	ENSG00000217325	ENSG00000217325	ENSG00000217325				43886	43886	pseudogene	pseudogene	pseudogene	pseudogene												Standard	Standard	NG_022903	NG_022903		Approved						OTTHUMG00000015520	OTTHUMG00000015520		6.37:g.126965460_126965462delCCA											0	818_820	+						RNA	DEL	ENST00000567272.1	37																																																																																											0.552	PRELID1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436205.1	.	.	-1	-1	8	8	NG_022903		2			4	0.33						2	4	0.33
AP2M1	1173	broad.mit.edu	37	3	183894841	183894841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr3:183894841delC	ENST00000292807.5	+	2	208	c.60delC	c.(58-60)tacfs	p.Y20fs	AP2M1_ENST00000439647.1_Frame_Shift_Del_p.Y20fs|AP2M1_ENST00000411763.2_Frame_Shift_Del_p.Y20fs|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Frame_Shift_Del_p.Y20fs	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGAGTCTACCGAGATGACA	0.587																																						ENST00000382456.3											0			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(58-60)tacfs	adaptor-related protein complex 2, mu 1 subunit						40.0	45.0	43.0					3																	183894841		2021	4190	6211	SO:0001589	frameshift_variant	1173			axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183894841delC	U36188	U36188	CCDS43177.1, CCDS43178.1	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			2008-07-18			ENSG00000161203	ENSG00000161203	ENSG00000161203	ENSG00000161203				564	564	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024	601024		CLAPM1		CLAPM1		8595912	8595912	Standard	Standard	NM_004068	NM_004068		Approved	AP50, mu2	uc003fmw.3	uc003fmw.3	Q96CW1	Q96CW1	OTTHUMG00000156822	OTTHUMG00000156822	ENST00000292807.5:c.60delC	3.37:g.183894841delC	ENSP00000292807:p.Tyr20fs		AP2M1_ENST00000292807.5_Frame_Shift_Del_p.Y20fs|AP2M1_ENST00000439647.1_Frame_Shift_Del_p.Y20fs|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Frame_Shift_Del_p.Y20fs	p.Y20fs	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	374	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		20		A6NE12|D3DNT1|P20172|P53679	Frame_Shift_Del	DEL	ENST00000292807.5	37	c.60delC	CCDS43177.1																																																																																									0.587	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	.	.	3	3	23	23	NM_004068		2			4	0.33						2	4	0.33
TYRP1	7306	broad.mit.edu	37	9	12704605	12704606	+	Frame_Shift_Ins	INS	-	-	GG	rs368775669		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr9:12704605_12704606insGG	ENST00000388918.5	+	6	1290_1291	c.1161_1162insGG	c.(1162-1164)gggfs	p.G388fs	TYRP1_ENST00000381137.2_Frame_Shift_Ins_p.G97fs|TYRP1_ENST00000381136.2_Frame_Shift_Ins_p.G98fs|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	388					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G388W(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TGAATGGAACAGGGGGACAAAC	0.465									Oculocutaneous Albinism																													ENST00000388918.5											1	Substitution - Missense(1)	lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(1162-1164)gggfs	tyrosinase-related protein 1																																			SO:0001589	frameshift_variant	7306	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12704605_12704606insGG	L33830	L33830	CCDS34990.1	CCDS34990.1	9p23	2013-01-08			2013-01-08			ENSG00000107165	ENSG00000107165	ENSG00000107165	ENSG00000107165				12450	12450	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			115501	115501		TYRP, CAS2		TYRP, CAS2		9434945	9434945	Standard	Standard	NM_000550	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	uc003zkv.4	P17643	P17643	OTTHUMG00000021034	OTTHUMG00000021034	ENST00000388918.5:c.1164_1165dupGG	9.37:g.12704608_12704609dupGG	ENSP00000373570:p.Gly388fs		TYRP1_ENST00000381136.2_Frame_Shift_Ins_p.G98fs|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Frame_Shift_Ins_p.G97fs	p.G388fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	6	1290_1291	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	388		P78468|P78469|Q13721|Q15679	Frame_Shift_Ins	INS	ENST00000388918.5	37	c.1161_1162insGG	CCDS34990.1																																																																																									0.465	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	.	.	12	12	93	93	NM_000550		22			70	0.23						22	70	0.23
BAP1	8314	broad.mit.edu	37	3	52437795	52437795	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr3:52437795delG	ENST00000460680.1	-	13	1837	c.1366delC	c.(1366-1368)cagfs	p.Q456fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.Q438fs	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)		AGGTCCTTCTGGGACTCTTTG	0.597			"""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.(1366-1368)cagfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						77.0	79.0	78.0					3																	52437795		2203	4300	6503	SO:0001589	frameshift_variant	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.chr3:52437795delG	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.1366delC	3.37:g.52437795delG	ENSP00000417132:p.Gln456fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.Q438fs	p.Q456fs	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	1837	-			456		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.1366delC	CCDS2853.1																																																																																									0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	-9	-9	47	47			20			4	0.83						20	4	0.83
