#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
EHMT2	10919	broad.mit.edu	37	6	31852696	31852696	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr6:31852696G>A	ENST00000375537.4	-	19	2447	c.2441C>T	c.(2440-2442)aCt>aTt	p.T814I	EHMT2_ENST00000395728.3_Missense_Mutation_p.T871I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.T837I|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375530.4_Missense_Mutation_p.T780I	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	814					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CACGTTGTCAGTGAGGGTGAC	0.632																																						ENST00000395728.3											0			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(2611-2613)aCt>aTt	euchromatic histone-lysine N-methyltransferase 2						62.0	51.0	55.0					6																	31852696		2203	4300	6503	SO:0001583	missense	10919			DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852696G>A	AF134726	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	14129	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604599	604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	8457211, 11316813	Standard	Standard	XM_005274833	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	uc003nxz.1	Q96KQ7	Q96KQ7	OTTHUMG00000031180	OTTHUMG00000031180	ENST00000375537.4:c.2441C>T	6.37:g.31852696G>A	ENSP00000364687:p.Thr814Ile		EHMT2_ENST00000375528.4_Missense_Mutation_p.T837I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.T780I|EHMT2_ENST00000375537.4_Missense_Mutation_p.T814I	p.T871I			Q96KQ7	EHMT2_HUMAN			18	2611	-			814		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.2612C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457173	0.43634	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.44	4.44	0.53790	4.44	4.44	0.53790	Ankyrin repeat-containing domain (3);	0.488062	0.20352	N	0.094021	T	0.35595	0.0937	L	0.31157	0.91	0.32015	N	0.601567	B;B;B;B	0.30236	0.274;0.232;0.274;0.274	B;B;B;B	0.34346	0.18;0.113;0.18;0.18	T	0.29792	-1.0000	10	0.37606	T	0.19	.	11.5827	0.50900	0.0:0.0:0.8214:0.1786	.	837;780;814;628	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	871;837;780;814;628	ENSP00000379078:T871I;ENSP00000364678:T837I;ENSP00000364680:T780I;ENSP00000364687:T814I	ENSP00000364678:T837I	T	-	2	0	0	EHMT2	31960675	31960675	0.000000	0.05858	0.984000	0.44739	0.954000	0.61252	0.427000	0.21379	2.466000	0.83321	0.650000	0.86243	ACT		0.632	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5		-1.610168	-14	-14	69	69	NM_006709		3	6.608511	6.608511	40	0.069767	0	0	0	1	0	3	40	0.069767
MACROD1	28992	broad.mit.edu	37	11	63884416	63884416	+	Intron	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr11:63884416G>A	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.R226H	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCCTGCGGCGCCTGGTGCTG	0.657																																						ENST00000246841.3											0			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(676-678)cGc>cAc	fibronectin leucine rich transmembrane protein 1						35.0	33.0	34.0					11																	63884416		2201	4296	6497	SO:0001627	intron_variant	23769			cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884416G>A	AF202922	AF169675	CCDS8056.1	CCDS8057.1	11q13.1	2007-07-24	2007-06-11		2014-03-03			ENSG00000133315	ENSG00000133315					"""Fibronectin type III domain containing"""	29598	3760	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610400	604806						15691879	10644439, 24482476	Standard	Standard	NM_014067	NM_013280		Approved	LRP16	uc001nyh.3	uc001nyi.1	Q9BQ69	Q9NZU1	OTTHUMG00000167843		ENST00000255681.6:c.517+34294C>T	11.37:g.63884416G>A			MACROD1_ENST00000255681.6_Intron	p.R226H	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	1720	+			198		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.677G>A	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786658	0.70337	.	.	ENSG00000126500	ENST00000246841	T	0.56776	0.44	5.56	4.64	0.57946	5.56	4.64	0.57946	.	0.344321	0.30575	N	0.009332	T	0.70422	0.3222	M	0.75085	2.285	0.49130	D	0.999758	D	0.89917	1.0	D	0.69479	0.964	T	0.72561	-0.4256	10	0.46703	T	0.11	-25.1721	14.6397	0.68714	0.0:0.0:0.8529:0.1471	.	198	Q9NZU1	FLRT1_HUMAN	H	226	ENSP00000246841:R226H	ENSP00000246841:R226H	R	+	2	0	0	FLRT1	63640992	63640992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.852000	0.86927	1.323000	0.45263	0.555000	0.69702	CGC		0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1		16.041685	-5	-5	25	25	NM_014067		6	16.906797	16.906797	15	0.285714	0	0	0	1	0	6	15	0.285714
PIK3R5	23533	broad.mit.edu	37	17	8789831	8789831	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr17:8789831G>A	ENST00000447110.1	-	13	2121	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	666	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGGTCTGGCGGCAAAGCGGCA	0.662																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1											0			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1996-1998)gCc>gTc	phosphoinositide-3-kinase, regulatory subunit 5						54.0	60.0	58.0					17																	8789831		2203	4300	6503	SO:0001583	missense	23533			platelet activation	cytosol|membrane|nucleus		g.chr17:8789831G>A	AF128881	AF128881	CCDS11147.1, CCDS73986.1	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506	ENSG00000141506	ENSG00000141506				30035	30035	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611317	611317						12507995	12507995	Standard	Standard	NM_014308	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	uc002glt.3	Q8WYR1	Q8WYR1	OTTHUMG00000108197	OTTHUMG00000108197	ENST00000447110.1:c.1997C>T	17.37:g.8789831G>A	ENSP00000392812:p.Ala666Val		PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V	p.A666V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			13	2121	-			666	Interaction with G beta gamma proteins (By similarity).	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1997C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744802	0.49151	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.81499	-1.5	4.78	3.73	0.42828	4.78	3.73	0.42828	.	0.115341	0.64402	D	0.000018	D	0.83714	0.5314	L	0.34521	1.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.85647	0.1280	10	0.72032	D	0.01	-17.27	14.0102	0.64490	0.0:0.1527:0.8473:0.0	.	666	Q8WYR1	PI3R5_HUMAN	V	666	ENSP00000392812:A666V	ENSP00000269300:A666V	A	-	2	0	0	PIK3R5	8730556	8730556	1.000000	0.71417	0.875000	0.34327	0.915000	0.54546	6.068000	0.71201	2.199000	0.70637	0.313000	0.20887	GCC		0.662	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		-3.817266	-9	-9	39	39	NM_014308		3	6.306143	6.306143	47	0.060000	0	0	0	1	0	3	47	0.06
TPCN1	53373	broad.mit.edu	37	12	113723746	113723746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr12:113723746C>G	ENST00000335509.6	+	18	1820	c.1506C>G	c.(1504-1506)taC>taG	p.Y502*	TPCN1_ENST00000550785.1_Nonsense_Mutation_p.Y574*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.Y434*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.Y574*	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	502					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTGTGGAGTACTTGTCTTCCG	0.587																																						ENST00000550785.1											0			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1720-1722)taC>taG	two pore segment channel 1						160.0	135.0	143.0					12																	113723746		2203	4300	6503	SO:0001587	stop_gained	53373				endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113723746C>G	AB032995	AB032995	CCDS31908.1, CCDS44985.1	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			2011-07-05			ENSG00000186815	ENSG00000186815	ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	"""Voltage-gated ion channels / Two-pore channels"""	18182	18182	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609666	609666						10574461, 10753632, 16382101	10574461, 10753632, 16382101	Standard	Standard	XM_005253905	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	uc001tux.3	Q9ULQ1	Q9ULQ1	OTTHUMG00000169625	OTTHUMG00000169625	ENST00000335509.6:c.1506C>G	12.37:g.113723746C>G	ENSP00000335300:p.Tyr502*		TPCN1_ENST00000541517.1_Nonsense_Mutation_p.Y574*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.Y434*|TPCN1_ENST00000335509.6_Nonsense_Mutation_p.Y502*	p.Y574*	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			19	1891	+			502		A7E258|Q86XS9|Q8NC20	Nonsense_Mutation	SNP	ENST00000335509.6	37	c.1722C>G	CCDS31908.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.937682|5.937682	0.97122|0.97122	.|.	.|.	ENSG00000186815|ENSG00000186815	ENST00000546781|ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	.|.	.|.	.|.	4.76|4.76	2.5|2.5	0.30297|0.30297	4.76|4.76	2.5|2.5	0.30297|0.30297	.|.	.|0.067384	.|0.64402	.|D	.|0.000008	T|.	0.22666|.	0.0547|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33752|.	-0.9856|.	3|.	.|0.02654	.|T	.|1	-22.7386|-22.7386	9.8195|9.8195	0.40874|0.40874	0.0:0.7401:0.0:0.2599|0.0:0.7401:0.0:0.2599	.|.	.|.	.|.	.|.	V|X	171|502;574;574;434	.|.	.|ENSP00000335300:Y502X	L|Y	+|+	1|3	0|2	0|2	TPCN1|TPCN1	112208129|112208129	112208129|112208129	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.881000|0.881000	0.50899|0.50899	0.913000|0.913000	0.28611|0.28611	1.055000|1.055000	0.40461|0.40461	0.591000|0.591000	0.81541|0.81541	CTT|TAC		0.587	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3		136.042785	-34	-34	56	56	NM_017901		39	137.233524	137.233524	21	0.650000	0	0	0	1	0	39	21	0.65
BAP1	8314	broad.mit.edu	37	3	52441217	52441217	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr3:52441217C>G	ENST00000460680.1	-	7	1024	c.553G>C	c.(553-555)Ggg>Cgg	p.G185R	BAP1_ENST00000296288.5_Missense_Mutation_p.G185R	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)		ACCTTCAGCCCATCCAGCTCA	0.592			"""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.(553-555)Ggg>Cgg	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						67.0	65.0	66.0					3																	52441217		2203	4300	6503	SO:0001583	missense	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.chr3:52441217C>G	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.553G>C	3.37:g.52441217C>G	ENSP00000417132:p.Gly185Arg		BAP1_ENST00000296288.5_Missense_Mutation_p.G185R	p.G185R	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)	7	1024	-			185		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.553G>C	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265133	0.95399	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	D;D;D	0.83250	-1.7;-1.7;-1.7	6.05	6.05	0.98169	6.05	6.05	0.98169	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	D	0.94837	0.8332	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95573	0.8640	10	0.87932	D	0	-6.6922	20.6086	0.99469	0.0:1.0:0.0:0.0	.	185	Q92560	BAP1_HUMAN	R	185;185;106	ENSP00000417132:G185R;ENSP00000296288:G185R;ENSP00000417776:G106R	ENSP00000296288:G185R	G	-	1	0	0	BAP1	52416257	52416257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.880000	0.98712	0.655000	0.94253	GGG		0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		74.335962	-33	-33	41	41			20	74.335961	74.335961	0	1.000000	0	0	0	1	0	20	0	1.0
FBXL17	64839	broad.mit.edu	37	5	107216757	107216757	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr5:107216757C>A	ENST00000542267.1	-	8	2352	c.1946G>T	c.(1945-1947)gGg>gTg	p.G649V	FBXL17_ENST00000359660.5_Missense_Mutation_p.G251V|FBXL17_ENST00000496714.1_Missense_Mutation_p.G251V	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	649										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TCTCATCAGCCCCAAATATCT	0.413																																						ENST00000542267.1											0			endometrium(1)|large_intestine(4)|lung(1)	6						c.(1945-1947)gGg>gTg	F-box and leucine-rich repeat protein 17						193.0	171.0	179.0					5																	107216757		2202	4300	6502	SO:0001583	missense	64839						g.chr5:107216757C>A	AL133602	AL133602	CCDS54886.1	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	"""F-boxes / Leucine-rich repeats"""	13615	13615	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609083	609083	"""F-box only protein 13"""	FBXO13	"""F-box only protein 13"""	FBXO13				Standard	Standard	NM_001163315	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	uc011cvc.2	Q9UF56	Q9UF56	OTTHUMG00000159785	OTTHUMG00000159785	ENST00000542267.1:c.1946G>T	5.37:g.107216757C>A	ENSP00000437464:p.Gly649Val		FBXL17_ENST00000359660.5_Missense_Mutation_p.G251V|FBXL17_ENST00000496714.1_Missense_Mutation_p.G251V	p.G649V	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2352	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	649		A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1946G>T	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339445	0.81911	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02421	4.3;4.3;4.3	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.13970	0.0338	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00041	-1.2232	10	0.59425	D	0.04	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	649;251	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	V	251;649;251	ENSP00000352683:G251V;ENSP00000437464:G649V;ENSP00000418111:G251V	ENSP00000352683:G251V	G	-	2	0	0	FBXL17	107244656	107244656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.459000	0.80802	2.824000	0.97209	0.655000	0.94253	GGG		0.413	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			133.269028	-9	-9	121	121			44	135.144598	135.144598	76	0.366667	1	0	4.10826e-27	1	4.31367e-27	44	76	0.366667
LUZP1	7798	broad.mit.edu	37	1	23418835	23418835	+	Silent	SNP	C	C	T	rs202187077		TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000374623.3_Silent_p.P640P|LUZP1_ENST00000314174.5_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468																																						ENST00000302291.4											2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1918-1920)ccG>ccA	leucine zipper protein 1						188.0	179.0	182.0					1																	23418835		2203	4300	6503	SO:0001819	synonymous_variant	7798				nucleus		g.chr1:23418835C>T	BC051733	BC051733	CCDS30628.1	CCDS30628.1	1p36	2008-02-05			2008-02-05			ENSG00000169641	ENSG00000169641	ENSG00000169641	ENSG00000169641				14985	14985	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601422	601422						8812416	8812416	Standard	Standard	NM_033631	NM_033631		Approved	LUZP	uc010odv.1	uc010odv.1	Q86V48	Q86V48	OTTHUMG00000003227	OTTHUMG00000003227	ENST00000302291.4:c.1920G>A	1.37:g.23418835C>T			LUZP1_ENST00000374623.3_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000314174.5_Silent_p.P640P	p.P640P			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2721	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	640		Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.1920G>A	CCDS30628.1																																																																																									0.468	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		-18.997514	-72	-72	164	164	NM_033631		4	7.506798	7.506798	109	0.035398	0	0	0	1	0	4	109	0.035398
PRKCH	5583	broad.mit.edu	37	14	61997175	61997175	+	Silent	SNP	C	C	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr14:61997175C>A	ENST00000332981.5	+	12	2008	c.1623C>A	c.(1621-1623)ggC>ggA	p.G541G	PRKCH_ENST00000555082.1_Silent_p.G380G|RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.A46E	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGGCAATGGGCGTGTTGCTCT	0.517																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000556347.1											0										c.(136-138)gCg>gAg							227.0	191.0	203.0					14																	61997175		2203	4300	6503	SO:0001819	synonymous_variant	0						g.chr14:61997175C>A	M55284		CCDS9752.1		14q23.1	2009-07-10						ENSG00000027075	ENSG00000027075			2.7.11.1			9403		protein-coding gene	gene with protein product					605437			PRKCL				1986216, 1545821		Standard		NM_006255			Approved	PKC-L, PKCL	uc001xfn.3		P24723		OTTHUMG00000152341		ENST00000332981.5:c.1623C>A	14.37:g.61997175C>A			PRKCH_ENST00000332981.5_Silent_p.G541G|PRKCH_ENST00000555082.1_Silent_p.G380G	p.A46E							2	137	+					B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.137C>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	8.251	0.808913	0.16537	.	.	ENSG00000258989	ENST00000556347	.	.	.	5.63	-6.63	0.01807	5.63	-6.63	0.01807	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43032	-0.9416	4	.	.	.	.	3.2251	0.06729	0.2075:0.2466:0.0728:0.4731	.	.	.	.	E	46	.	.	A	+	2	0	0	RP11-47I22.4	61066928	61066928	0.000000	0.05858	0.488000	0.27440	0.843000	0.47879	-5.643000	0.00107	-0.944000	0.03686	-0.145000	0.13849	GCG		0.517	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2		-37.321223	-24	-24	135	135	NM_006255		4	7.039049	7.039049	171	0.022857	1	0	1	1	1	4	171	0.022857
APC	324	broad.mit.edu	37	5	112179702	112179702	+	Missense_Mutation	SNP	A	A	C			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr5:112179702A>C	ENST00000457016.1	+	16	8791	c.8411A>C	c.(8410-8412)cAg>cCg	p.Q2804P	APC_ENST00000508376.2_Missense_Mutation_p.Q2804P|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.Q2804P			P25054	APC_HUMAN	adenomatous polyposis coli	2804	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGGCCATCTCAGATCCCAACT	0.488		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(8410-8412)cAg>cCg	adenomatous polyposis coli						87.0	90.0	89.0					5																	112179702		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112179702A>C	M74088	M74088	CCDS4107.1	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	583	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	"""protein phosphatase 1, regulatory subunit 46"""	611731	611731	"""adenomatosis polyposis coli"""		"""adenomatosis polyposis coli"""			1651563	1651563	Standard	Standard	NM_001127511	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	uc003kpy.4	P25054	P25054	OTTHUMG00000128806	OTTHUMG00000128806	ENST00000457016.1:c.8411A>C	5.37:g.112179702A>C	ENSP00000413133:p.Gln2804Pro		APC_ENST00000508376.2_Missense_Mutation_p.Q2804P|APC_ENST00000257430.4_Missense_Mutation_p.Q2804P|CTC-554D6.1_ENST00000520401.1_Intron	p.Q2804P			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8791	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2804	Ser-rich.	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.8411A>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876930	0.33162	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.81247	-1.47;-1.47;-1.47	5.92	5.92	0.95590	5.92	5.92	0.95590	EB-1 binding (1);	0.059812	0.64402	D	0.000001	D	0.83788	0.5330	L	0.29908	0.895	0.58432	D	0.999995	D;D	0.71674	0.998;0.998	D;D	0.75020	0.943;0.985	T	0.82770	-0.0293	9	.	.	.	-8.164	16.3662	0.83325	1.0:0.0:0.0:0.0	.	2806;2804	Q4LE70;P25054	.;APC_HUMAN	P	2804	ENSP00000413133:Q2804P;ENSP00000257430:Q2804P;ENSP00000427089:Q2804P	.	Q	+	2	0	0	APC	112207601	112207601	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	5.085000	0.64468	2.274000	0.75844	0.533000	0.62120	CAG		0.488	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		140.078230	-22	-22	52	52	NM_000038		45	140.247565	140.247565	37	0.548780	0	0	0	1	0	45	37	0.54878
CNPY2	10330	broad.mit.edu	37	12	56705072	56705072	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr12:56705072G>A	ENST00000273308.4	-	4	871	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R111W|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	111	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						TCTCCATTCCGGCCCACTACA	0.522																																						ENST00000273308.4											0			large_intestine(2)|lung(2)	4						c.(331-333)Cgg>Tgg	canopy FGF signaling regulator 2						223.0	206.0	212.0					12																	56705072		2203	4300	6503	SO:0001583	missense	10330				endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705072G>A	AB015631	AB015631	CCDS8914.1	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727		ENSG00000257727				13529	13529	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605861	605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	10072769, 15905959	Standard	Standard	NM_001190991	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	uc001sku.2	Q9Y2B0	Q9Y2B0	OTTHUMG00000170330	OTTHUMG00000170330	ENST00000273308.4:c.331C>T	12.37:g.56705072G>A	ENSP00000273308:p.Arg111Trp		RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R111W|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	p.R111W	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	871	-			111	Saposin B-type.	B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.331C>T	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821989	0.90873	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.03	5.03	0.67393	5.03	5.03	0.67393	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.65150	-0.6238	10	0.37606	T	0.19	-12.0587	16.232	0.82352	0.0:0.0:1.0:0.0	.	111	Q9Y2B0	CNPY2_HUMAN	W	111;111;111;59	ENSP00000446743:R111W;ENSP00000273308:R111W;ENSP00000448809:R111W;ENSP00000446784:R59W	ENSP00000273308:R111W	R	-	1	2	2	RP11-977G19.10;CNPY2	54991339	54991339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.373000	0.66162	2.521000	0.84997	0.561000	0.74099	CGG		0.522	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1		308.891984	-75	-75	147	147	NM_014255		96	309.127241	309.127241	111	0.463768	0	0	0	1	0	96	111	0.463768
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		42.813087	-25	-25	56	56	NM_002067		15	43.918574	43.918574	30	0.333333	0	0	0	1	0	15	30	0.333333
KIDINS220	57498	broad.mit.edu	37	2	8953441	8953441	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr2:8953441C>T	ENST00000256707.3	-	5	512	c.331G>A	c.(331-333)Gca>Aca	p.A111T	KIDINS220_ENST00000418530.1_Missense_Mutation_p.A69T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A111T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A111T|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A111T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	111					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTGTAACATGCCCACATAAGA	0.373																																						ENST00000256707.3											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(331-333)Gca>Aca	kinase D-interacting substrate, 220kDa						152.0	140.0	144.0					2																	8953441		1891	4132	6023	SO:0001583	missense	57498			activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8953441C>T	AK025528	AK025528	CCDS42650.1	CCDS42650.1	2p24	2013-01-10			2013-01-10			ENSG00000134313	ENSG00000134313	ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	29508	29508	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	"""ankyrin repeat-rich membrane-spanning protein"""	615759	615759						10998417, 10574462	10998417, 10574462	Standard	Standard	NM_020738	NM_020738		Approved	ARMS	uc002qzc.2	uc002qzc.2	Q9ULH0	Q9ULH0	OTTHUMG00000151658	OTTHUMG00000151658	ENST00000256707.3:c.331G>A	2.37:g.8953441C>T	ENSP00000256707:p.Ala111Thr		KIDINS220_ENST00000418530.1_Missense_Mutation_p.A69T|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A111T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A111T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A111T	p.A111T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			5	512	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		111		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.331G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208718	0.95069	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	D;D;D;D;D;D	0.86956	-2.19;-2.19;-1.56;-2.19;-2.19;-2.19	6.06	5.17	0.71159	6.06	5.17	0.71159	Ankyrin repeat-containing domain (3);	0.099710	0.64402	D	0.000002	D	0.95101	0.8413	M	0.93150	3.385	0.80722	D	1	P;D;D	0.76494	0.565;0.995;0.999	B;D;D	0.74023	0.341;0.97;0.982	D	0.96291	0.9214	10	0.87932	D	0	.	16.1848	0.81942	0.1344:0.8656:0.0:0.0	.	111;69;111	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	T	111;111;69;111;111;111	ENSP00000256707:A111T;ENSP00000411849:A111T;ENSP00000414923:A69T;ENSP00000418974:A111T;ENSP00000419964:A111T;ENSP00000319947:A111T	ENSP00000256707:A111T	A	-	1	0	0	KIDINS220	8870892	8870892	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	5.525000	0.67110	1.530000	0.49136	0.650000	0.86243	GCA		0.373	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2		-43.968834	-36	-36	110	110	NM_020738		4	7.121035	7.121035	194	0.020202	0	0	0	1	0	4	194	0.020202
SF3B1	23451	broad.mit.edu	37	2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G	rs374250186		TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr2:198267360T>G	ENST00000335508.6	-	14	2088	c.1997A>C	c.(1996-1998)aAg>aCg	p.K666T	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	666					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K666R(7)|p.K666T(6)|p.K666M(6)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTACAATCTTAATACCAGT	0.413			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	19	Substitution - Missense(19)	haematopoietic_and_lymphoid_tissue(18)|NS(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1996-1998)aAg>aCg	splicing factor 3b, subunit 1, 155kDa						116.0	116.0	116.0					2																	198267360		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267360T>G	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1997A>C	2.37:g.198267360T>G	ENSP00000335321:p.Lys666Thr			p.K666T	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2088	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1997A>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736206	0.89482	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	5.68	5.68	0.88126	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89754	0.3942	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	666	O75533	SF3B1_HUMAN	T	666	ENSP00000335321:K666T	ENSP00000335321:K666T	K	-	2	0	0	SF3B1	197975605	197975605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	AAG		0.413	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		88.893370	-21	-21	48	48			28	88.908523	88.908523	30	0.482759	0	0	0	1	0	28	30	0.482759
DDX50	79009	broad.mit.edu	37	10	70661179	70661179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr10:70661179delG	ENST00000373585.3	+	1	146	c.39delG	c.(37-39)ctgfs	p.L13fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	13						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTATGGAGCTGGAAGCACCCT	0.657																																						ENST00000373585.3											0			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(37-39)ctgfs	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50						24.0	22.0	23.0					10																	70661179		2196	4289	6485	SO:0001589	frameshift_variant	79009				nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70661179delG	AF334103	AF334103	CCDS7283.1	CCDS7283.1	10q22.2	2010-09-30			2010-09-30			ENSG00000107625	ENSG00000107625	ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	"""DEAD-boxes"""	17906	17906	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610373	610373						11891046	11891046	Standard	Standard	NM_024045	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	uc001jou.3	Q9BQ39	Q9BQ39	OTTHUMG00000018362	OTTHUMG00000018362	ENST00000373585.3:c.39delG	10.37:g.70661179delG	ENSP00000362687:p.Leu13fs			p.L13fs	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			1	146	+			13		Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Del	DEL	ENST00000373585.3	37	c.39delG	CCDS7283.1																																																																																									0.657	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	.	.	-7	-7	7	7	NM_024045		2			4	0.33						2	4	0.33
MAGEC3	139081	broad.mit.edu	37	X	140984758	140984758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chrX:140984758delA	ENST00000298296.1	+	7	1214	c.1214delA	c.(1213-1215)cagfs	p.Q405fs	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.Q27fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.Q107fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	405	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					atctctccccagggtcctccg	0.582																																						ENST00000298296.1											0			NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1213-1215)cagfs	melanoma antigen family C, 3						27.0	25.0	26.0					X																	140984758		2202	4292	6494	SO:0001589	frameshift_variant	139081						g.chrX:140984758delA	AF490508	AF490508	CCDS14676.1, CCDS14677.1	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			2009-03-25			ENSG00000165509	ENSG00000165509	ENSG00000165509	ENSG00000165509				23798	23798	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	"""cancer/testis antigen family 7, member 2"""	300469	300469						10861452	10861452	Standard	Standard	NM_138702	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	uc011mwp.2	Q8TD91	Q8TD91	OTTHUMG00000022570	OTTHUMG00000022570	ENST00000298296.1:c.1214delA	X.37:g.140984758delA	ENSP00000298296:p.Gln405fs		MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.Q27fs|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.Q107fs	p.Q405fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1214	+	Acute lymphoblastic leukemia(192;6.56e-05)		405	Pro-rich.	Q3SYA7|Q5JZ43|Q9BZ80	Frame_Shift_Del	DEL	ENST00000298296.1	37	c.1214delA	CCDS14676.1																																																																																									0.582	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	.	.	-8	-8	7	7	NM_138702		2			4	0.33						2	4	0.33
