#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
MMS19	64210	broad.mit.edu	37	10	99219804	99219804	+	Splice_Site	DEL	T	T	-			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:99219804delT	ENST00000438925.2	-	26	2990	c.2655delA	c.(2653-2655)caa>ca	p.Q885fs	MMS19_ENST00000370782.2_Splice_Site_p.Q885fs|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Splice_Site_p.Q787fs|MMS19_ENST00000355839.6_Splice_Site_p.Q842fs	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	885					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ACTCCTCACCTTGGGGAGCAG	0.522								Direct reversal of damage																														ENST00000438925.2	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(2653-2655)caa>ca	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							86.0	84.0	85.0					10																	99219804		2203	4300	6503	SO:0001630	splice_region_variant	64210	0	0					g.chr10:99219804delT	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2656+1A>-	chr10.hg19:g.99219804delT		1					MMS19_ENST00000370782.2_Splice_Site_p.Q885fs|MMS19_ENST00000327238.10_Splice_Site_p.Q787fs|MMS19_ENST00000355839.6_Splice_Site_p.Q842fs|MMS19_ENST00000327277.7_3'UTR	p.Q885fs	NM_022362.4	NP_071757.4	1	3	4	2.039895	Q96T76	MMS19_HUMAN		26	2990	-		Colorectal(252;0.0846)	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Splice_Site	DEL	ENST00000438925.2	1	0	hg19	c.2655delA	CCDS7464.1	1																																																																																								0.462810		TCGA-IB-8127-01A-11D-2396-08	0.522	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2	1	0	1		2	2		0		0	0	71		71	70	1	3.330000	-3.714978	1	0.350000		Frame_Shift_Del		123	126		458	452	0		1	1	0	0	0	71	0		1.000000	1	0	8	0	165	0	123	458
UNC50	25972	broad.mit.edu	37	2	99226227	99226228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			-	A	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:99226227_99226228insA	ENST00000357765.2	+	2	157_158	c.5_6insA	c.(4-9)ttaccgfs	p.P3fs	COA5_ENST00000328709.3_5'Flank|COA5_ENST00000409997.1_5'Flank|UNC50_ENST00000409975.1_Frame_Shift_Ins_p.P20fs|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409347.1_Frame_Shift_Ins_p.P20fs	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	3					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGGAAGATGTTACCGAGTACTT	0.45																																						ENST00000357765.2	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				10						c.(4-9)ttaccgfs		unc-50 homolog (C. elegans)																																				SO:0001589	frameshift_variant	25972	0	0					g.chr2:99226227_99226228insA		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.6dupA	chr2.hg19:g.99226228_99226228dupA	ENSP00000350409:p.Pro3fs	1					COA5_ENST00000483527.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Frame_Shift_Ins_p.P20fs|UNC50_ENST00000409975.1_Frame_Shift_Ins_p.P20fs|COA5_ENST00000409997.1_5'Flank	p.P3fs	NM_014044.5	NP_054763.2	2	2	4	2.240843	Q53HI1	UNC50_HUMAN		2	157_158	+			D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Frame_Shift_Ins	INS	ENST00000357765.2	0	1	hg19	c.5_6insA	CCDS2035.1	1																																																																																								0.518519		TCGA-IB-8127-01A-11D-2396-08	0.450	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	1	0	1		2	2		0		0	0	297		297	297	1	3.330000	-20.000000	1	0.350000	NM_014044			449	448		2250	2230	0		1	0	0	0	0	297	0		1.000000	1	0	0	0	224	0	449	2250
ATM	472	broad.mit.edu	37	11	108199926	108199926	+	Missense_Mutation	SNP	A	A	G	rs121434221		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:108199926A>G	ENST00000452508.2	+	50	7457	c.7268A>G	c.(7267-7269)gAa>gGa	p.E2423G	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2423G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2423	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		E -> G (in mantle cell lymphoma). {ECO:0000269|PubMed:10397742, ECO:0000269|PubMed:10706620}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E2423G(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCCAAAGAGGAAGTAGGTCTC	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000452508.2	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000			yes	Rec	yes	Ataxia-telangiectasia	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	11q22.3	472	D, Mis, N, F, S	ataxia telangiectasia mutated				"""L, O"""	L, O		leukemia, lymphoma, medulloblastoma, glioma	T-PLL		1	Substitution - Missense(1)	p.E2423G(1)	haematopoietic_and_lymphoid_tissue(1)	448						c.(7267-7269)gAa>gGa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ATM serine/threonine kinase	Caffeine(DB00201)						68.0	67.0	68.0					11																	108199926		2201	4298	6499	SO:0001583	missense	472	0	0		Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	g.chr11:108199926A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7268A>G	chr11.hg19:g.108199926A>G	ENSP00000388058:p.Glu2423Gly	1	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2423G	p.E2423G			0	4	4	2.045999	Q13315	ATM_HUMAN		50	7457	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	1	1	hg19	c.7268A>G	CCDS31669.1	1	.	.	.	.	.	.	.	.	.	.	A	31	5.072143	0.93950	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.69561	-0.41;-0.41	5.4	5.4	0.78164	5.4	5.4	0.78164	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82047	-0.0651	10	0.48119	T	0.1	.	15.4276	0.75065	1.0:0.0:0.0:0.0	.	2423	Q13315	ATM_HUMAN	G	2423	ENSP00000278616:E2423G;ENSP00000388058:E2423G	ENSP00000278616:E2423G	E	+	2	0	0	ATM	107705136	107705136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.332000	0.96446	2.038000	0.60285	0.528000	0.53228	GAA	0.499037		TCGA-IB-8127-01A-11D-2396-08	0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1		2	2	2	0		0	0	44		44	44	1	3.330000	-20.000000	1	0.350000	NM_000051			135	131		145	144	1		1	1	1	0	0	44	175		1.000000	9.999988e-01	1	13	69	14	70	135	145
OR10G7	390265	broad.mit.edu	37	11	123908881	123908881	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:123908881G>A	ENST00000330487.5	-	1	836	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGTCAGCGTGGTGTAGAAAA	0.498																																						ENST00000330487.5	1.000000	5.000000e-02	2.400000e-01	9.000000e-02	0.140000	0.245508	0.140000	0.120000																										0				47						c.(826-828)acC>acT		olfactory receptor, family 10, subfamily G, member 7							104.0	95.0	98.0					11																	123908881		2200	4299	6499	SO:0001819	synonymous_variant	390265	0	0					g.chr11:123908881G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.828C>T	chr11.hg19:g.123908881G>A		1						p.T276T	NM_001004463.1	NP_001004463.1	0	4	4	2.045999	Q8NGN6	O10G7_HUMAN		1	836	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Q6IFE8	Silent	SNP	ENST00000330487.5	0	1	hg19	c.828C>T	CCDS31705.1	0																																																																																								0.499037		TCGA-IB-8127-01A-11D-2396-08	0.498	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	0	0	1		2	2	2	0		0	0	64		64	64	1	3.330000	-3.194992	1	0.350000	NM_001004463			8	8		453	447	0		1			0	0	64	0		0.988818	0	0	0	0	0	0	8	453
CCND2	894	broad.mit.edu	37	12	4383259	4383259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:4383259G>A	ENST00000261254.3	+	1	322	c.53G>A	c.(52-54)cGc>cAc	p.R18H	RP11-264F23.4_ENST00000537370.1_RNA|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	18					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GTGCGGGACCGCAACCTGCTC	0.667			T	IGL@	"""NHL,CLL"""																																	ENST00000261254.3	1.000000	5.000000e-02	1	1.100000e-01	0.200000	0.340173	0.200000	0.170000				Dom	yes			Dom	yes		12	12p13	12p13	894	T	cyclin D2				L	L	IGL@		NHL,CLL		0				17						c.(52-54)cGc>cAc		cyclin D2							48.0	41.0	43.0					12																	4383259		2203	4300	6503	SO:0001583	missense	894	1	121398	20				g.chr12:4383259G>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.53G>A	chr12.hg19:g.4383259G>A	ENSP00000261254:p.Arg18His	1					RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	p.R18H	NM_001759.3	NP_001750.1	1	3	4	2.064882	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)	1	322	+			A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	0	1	hg19	c.53G>A	CCDS8524.1	0	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643155	0.47153	.	.	ENSG00000118971	ENST00000261254	T	0.08282	3.11	4.17	1.27	0.21489	4.17	1.27	0.21489	Cyclin-like (1);	0.176202	0.51477	D	0.000085	T	0.04497	0.0123	N	0.19112	0.55	0.32574	N	0.52943	P	0.39116	0.66	B	0.30646	0.118	T	0.26155	-1.0111	10	0.72032	D	0.01	.	8.7994	0.34898	0.1271:0.4759:0.397:0.0	.	18	P30279	CCND2_HUMAN	H	18	ENSP00000261254:R18H	ENSP00000261254:R18H	R	+	2	0	0	CCND2	4253520	4253520	1.000000	0.71417	0.997000	0.53966	0.504000	0.33889	3.174000	0.50847	0.064000	0.16427	-0.339000	0.08088	CGC	0.485149		TCGA-IB-8127-01A-11D-2396-08	0.667	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	0	0	1		2	2	2	0		0	0	21		21	20	1	3.330000	-6.110801	1	0.350000	NM_001759			4	4		177	174	0		1	0		0	0	21	0		0.887322	1.644763e-01	0	0	0	26	0	4	177
CLEC2D	29121	broad.mit.edu	37	12	9840545	9840545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:9840545G>A	ENST00000290855.6	+	3	242	c.220G>A	c.(220-222)Gca>Aca	p.A74T	CLEC2D_ENST00000261339.6_Missense_Mutation_p.A37T|CLEC2D_ENST00000261340.7_Missense_Mutation_p.A74T|CLEC2D_ENST00000545918.1_Missense_Mutation_p.A37T|CLEC2D_ENST00000543300.1_Missense_Mutation_p.A74T	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	74					cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						TCTTCAAGCTGCATGCCCAGA	0.328																																						ENST00000290855.6	1.000000	3.000000e-02	1	5.000000e-02	0.090000	0.253313	0.090000	0.080000																										0				9						c.(220-222)Gca>Aca		C-type lectin domain family 2, member D							85.0	85.0	85.0					12																	9840545		2203	4300	6503	SO:0001583	missense	29121	0	0					g.chr12:9840545G>A	AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.220G>A	chr12.hg19:g.9840545G>A	ENSP00000290855:p.Ala74Thr	1					CLEC2D_ENST00000543300.1_Missense_Mutation_p.A74T|CLEC2D_ENST00000261340.7_Missense_Mutation_p.A74T|CLEC2D_ENST00000545918.1_Missense_Mutation_p.A37T|CLEC2D_ENST00000261339.6_Missense_Mutation_p.A37T	p.A74T	NM_013269.5	NP_037401.1	1	3	4	2.022611	Q9UHP7	CLC2D_HUMAN		3	242	+			D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Missense_Mutation	SNP	ENST00000290855.6	0	1	hg19	c.220G>A	CCDS8602.1	0	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268812	0.23136	.	.	ENSG00000069493	ENST00000479410;ENST00000261340;ENST00000290855;ENST00000545918;ENST00000543300;ENST00000261339;ENST00000466035;ENST00000430909;ENST00000544322;ENST00000460309	T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;0.96;0.96;-0.02;-0.02;0.96;0.96;-0.02;-0.02;0.96	3.17	2.01	0.26516	3.17	2.01	0.26516	C-type lectin-like (1);	0.215967	0.20083	U	0.099615	T	0.46619	0.1402	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31790	0.104;0.112;0.34	B;B;B	0.40009	0.316;0.05;0.316	T	0.32903	-0.9889	9	.	.	.	-6.2397	5.3342	0.15949	0.2405:0.0:0.7595:0.0	.	74;74;74	Q9UHP7-5;Q9UHP7;Q9UHP7-3	.;CLC2D_HUMAN;.	T	32;74;74;37;74;37;31;53;48;17	ENSP00000442252:A32T;ENSP00000261340:A74T;ENSP00000290855:A74T;ENSP00000444818:A37T;ENSP00000443065:A74T;ENSP00000261339:A37T;ENSP00000446028:A31T;ENSP00000413045:A53T;ENSP00000437861:A48T;ENSP00000443177:A17T	.	A	+	1	0	0	CLEC2D	9731812	9731812	0.000000	0.05858	0.002000	0.10522	0.063000	0.16089	-1.111000	0.03303	0.390000	0.25115	0.430000	0.28490	GCA	0.486572		TCGA-IB-8127-01A-11D-2396-08	0.328	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2	0	0	1		2	2	2	0		0	0	114		114	112	1	3.330000	-2.257911	0	0.350000	NM_013269			7	7		595	585	0		1	0		0	0	114	0		0.979506	1.113916e-01	0	0	0	41	0	7	595
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	2	4	6	2.345273	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.35G>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.551105		TCGA-IB-8127-01A-11D-2396-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1		2	2	2	0		0	0	24		24	24	1	3.330000	-20.000000	1	0.350000	NM_033360			48	48		69	69	1		1	1	1	0	0	24	420		1.000000	1	1	46	111	35	246	48	69
HOXC10	3226	broad.mit.edu	37	12	54379388	54379388	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:54379388C>T	ENST00000303460.4	+	1	419	c.345C>T	c.(343-345)agC>agT	p.S115S	HOXC-AS3_ENST00000567780.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	115					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GCATGTACAGCGCAGAGAAGC	0.622																																						ENST00000303460.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				20						c.(343-345)agC>agT		homeobox C10							43.0	45.0	44.0					12																	54379388		2203	4300	6503	SO:0001819	synonymous_variant	3226	1	121410	19				g.chr12:54379388C>T		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.345C>T	chr12.hg19:g.54379388C>T		1					HOXC-AS3_ENST00000513165.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	p.S115S	NM_017409.3	NP_059105.2	2	3	5	2.272987	Q9NYD6	HXC10_HUMAN		1	419	+			O15219|O15220|Q9BVD5	Silent	SNP	ENST00000303460.4	1	1	hg19	c.345C>T	CCDS8868.1	1																																																																																								0.537119		TCGA-IB-8127-01A-11D-2396-08	0.622	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2	1	0	1		2	2	2	0		0	0	62		62	61	1	3.330000	-20.000000	1	0.350000				88	87		337	336	1		1	0		0	0	62	0		1.000000	4.455657e-01	0	0	0	7	0	88	337
LYZ	4069	broad.mit.edu	37	12	69744008	69744008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:69744008G>A	ENST00000261267.2	+	2	325	c.257G>A	c.(256-258)gGc>gAc	p.G86D	LYZ_ENST00000548839.1_Missense_Mutation_p.G86D|LYZ_ENST00000549690.1_Missense_Mutation_p.G86D	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	86					cell wall macromolecule catabolic process (GO:0016998)|cytolysis (GO:0019835)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|lysozyme activity (GO:0003796)			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		L-Aspartic Acid(DB00128)	TGTAATGATGGCAAAACCCCA	0.413																																						ENST00000261267.2	1.000000	1.000000e-02	1	3.000000e-02	0.070000	0.289599	0.070000	0.050000																										0				4						c.(256-258)gGc>gAc		lysozyme	L-Aspartic Acid(DB00128)						151.0	132.0	138.0					12																	69744008		2203	4300	6503	SO:0001583	missense	4069	0	0					g.chr12:69744008G>A	X14008	CCDS8989.1	12q15	2014-09-17	2010-04-29			ENSG00000090382	3.2.1.17		6740	protein-coding gene	gene with protein product	"""renal amyloidosis"""	153450	"""lysozyme (renal amyloidosis)"""			8464497, 2546758	Standard	NM_000239		Approved		uc001suw.2	P61626	OTTHUMG00000169342	ENST00000261267.2:c.257G>A	chr12.hg19:g.69744008G>A	ENSP00000261267:p.Gly86Asp	1					LYZ_ENST00000548839.1_Missense_Mutation_p.G86D|LYZ_ENST00000549690.1_Missense_Mutation_p.G86D	p.G86D	NM_000239.2	NP_000230.1	3	3	6	2.279019	P61626	LYSC_HUMAN	Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)	2	325	+	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		P00695|Q13170|Q9UCF8	Missense_Mutation	SNP	ENST00000261267.2	0	1	hg19	c.257G>A	CCDS8989.1	0	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381206	0.42207	.	.	ENSG00000090382	ENST00000261267;ENST00000549690;ENST00000548839	T;T;T	0.76186	-1.0;-1.0;-1.0	5.94	5.94	0.96194	5.94	5.94	0.96194	Lysozyme-like domain (1);	0.220360	0.46758	D	0.000261	D	0.82572	0.5066	M	0.76328	2.33	0.48288	D	0.999622	P	0.36768	0.569	P	0.53450	0.726	T	0.80830	-0.1207	9	.	.	.	.	11.1713	0.48573	0.0826:0.0:0.9174:0.0	.	86	P61626	LYSC_HUMAN	D	86	ENSP00000261267:G86D;ENSP00000449898:G86D;ENSP00000449969:G86D	.	G	+	2	0	0	LYZ	68030275	68030275	1.000000	0.71417	0.999000	0.59377	0.104000	0.19210	3.368000	0.52357	2.820000	0.97059	0.650000	0.86243	GGC	0.537696		TCGA-IB-8127-01A-11D-2396-08	0.413	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403624.2	0	0	0		2	2	2	0		0	0	97		97	97	1	3.330000	-2.519719	1	0.350000	NM_000239			5	5		664	656	0		1	1		0	0	97	0		0.935753	9.999967e-01	0	9	0	6779	0	5	664
ZFC3H1	196441	broad.mit.edu	37	12	72008421	72008421	+	Missense_Mutation	SNP	T	T	C	rs11541286	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:72008421T>C	ENST00000378743.3	-	30	5778	c.5420A>G	c.(5419-5421)aAa>aGa	p.K1807R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1807			K -> R (in dbSNP:rs11541286).		RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGTAAAAAATTTGAATTCTTG	0.333													T|||	207	0.0413339	0.0113	0.0562	5008	,	,		15627	0.003		0.0606	False		,,,				2504	0.091					ENST00000378743.3	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				69						c.(5419-5421)aAa>aGa		zinc finger, C3H1-type containing		T	ARG/LYS	73,3539		1,71,1734	111.0	112.0	112.0		5420	0.0	1.0	12	dbSNP_120	112	615,7523		17,581,3471	yes	missense	ZFC3H1	NM_144982.4	26	18,652,5205	CC,CT,TT		7.5571,2.021,5.8553	probably-damaging	1807/1990	72008421	688,11062	1806	4069	5875	SO:0001583	missense	196441	8088	120786	74				g.chr12:72008421T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5420A>G	chr12.hg19:g.72008421T>C	ENSP00000368017:p.Lys1807Arg	1						p.K1807R	NM_144982.4	NP_659419.3	3	3	6	2.279019	O60293	ZC3H1_HUMAN		30	5778	-			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	1	0	hg19	c.5420A>G	CCDS41813.1	1	76	0.0347985347985348	3	0.006097560975609756	24	0.06629834254143646	1	0.0017482517482517483	48	0.0633245382585752	T	12.11	1.840561	0.32513	0.02021	0.075571	ENSG00000133858	ENST00000378743	T	0.34072	1.38	5.35	0.0229	0.14135	5.35	0.0229	0.14135	.	0.161807	0.53938	N	0.000047	T	0.00998	0.0033	L	0.27053	0.805	0.80722	D	1	B	0.15141	0.012	B	0.12156	0.007	T	0.08310	-1.0728	10	0.48119	T	0.1	.	5.3631	0.16099	0.1189:0.2036:0.0:0.6775	rs11541286;rs52822945;rs59889096;rs11541286	1807	O60293	ZC3H1_HUMAN	R	1807	ENSP00000368017:K1807R	ENSP00000368017:K1807R	K	-	2	0	0	ZFC3H1	70294688	70294688	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	0.659000	0.24994	-0.238000	0.09724	0.455000	0.32223	AAA	0.537696		TCGA-IB-8127-01A-11D-2396-08	0.333	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	1		36	2	2	0		0	2	126		126	125	1	3.330000	-0.878318	0	0.350000	NM_144982			240	238		837	828	1		1	1		0	0	126	0		1.000000	1	0	36	0	61	0	240	837
BTBD11	121551	broad.mit.edu	37	12	108010914	108010914	+	Missense_Mutation	SNP	G	G	A	rs147351765		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:108010914G>A	ENST00000280758.5	+	8	2578	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.E684K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E221K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E684K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	684						integral component of membrane (GO:0016021)		p.E684K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGAGCATGGCGAGGAGAACTA	0.607																																						ENST00000280758.5	1.000000	7.600000e-01	1	8.500000e-01	0.950000	0.936497	0.950000	1.000000																										2	Substitution - Missense(2)	p.E684K(2)	endometrium(1)|skin(1)	53						c.(2050-2052)Gag>Aag		BTB (POZ) domain containing 11							139.0	116.0	124.0					12																	108010914		2203	4300	6503	SO:0001583	missense	121551	1	121412	33				g.chr12:108010914G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2050G>A	chr12.hg19:g.108010914G>A	ENSP00000280758:p.Glu684Lys	1					BTBD11_ENST00000490090.2_Missense_Mutation_p.E684K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E684K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E221K|RP11-128P10.1_ENST00000548473.1_RNA	p.E684K	NM_001018072.1	NP_001018082.1	0	3	3	1.748988	A6QL63	BTBDB_HUMAN		8	2578	+			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	1	1	hg19	c.2050G>A	CCDS31893.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942606	0.73672	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.39592	1.26;1.2;1.27;1.07	5.27	5.27	0.74061	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.249509	0.47455	D	0.000233	T	0.35451	0.0932	N	0.11313	0.125	0.80722	D	1	D;P;D;D	0.69078	0.99;0.618;0.98;0.997	P;B;P;P	0.48873	0.481;0.195;0.514;0.593	T	0.35871	-0.9771	10	0.49607	T	0.09	.	18.8886	0.92389	0.0:0.0:1.0:0.0	.	684;221;684;684	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	K	684;684;684;221	ENSP00000280758:E684K;ENSP00000413889:E684K;ENSP00000447319:E684K;ENSP00000349690:E221K	ENSP00000280758:E684K	E	+	1	0	0	BTBD11	106535044	106535044	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	5.294000	0.65687	2.454000	0.82982	0.655000	0.94253	GAG	0.435886		TCGA-IB-8127-01A-11D-2396-08	0.607	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1		2	2	2	0		0	0	105		105	103	1	3.330000	-2.966679	1	0.350000	NM_152322			86	85		516	509	1		1	0		0	0	105	0		1.000000	2.095123e-02	0	0	0	2	0	86	516
PCDH9	5101	broad.mit.edu	37	13	66879140	66879140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr13:66879140C>A	ENST00000377865.2	-	4	3495	c.3361G>T	c.(3361-3363)Gga>Tga	p.G1121*	PCDH9_ENST00000328454.5_Nonsense_Mutation_p.G1087*|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.G1087*|PCDH9_ENST00000544246.1_Nonsense_Mutation_p.G1121*			Q9HC56	PCDH9_HUMAN	protocadherin 9	1121					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCAGCTAATCCTCGGGGACCC	0.428																																						ENST00000377865.2	1.000000	8.200000e-01	1	9.500000e-01	0.990000	0.980959	0.990000	1.000000																										0				103						c.(3361-3363)Gga>Tga		protocadherin 9							46.0	43.0	44.0					13																	66879140		2203	4300	6503	SO:0001587	stop_gained	5101	0	0					g.chr13:66879140C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3361G>T	chr13.hg19:g.66879140C>A	ENSP00000367096:p.Gly1121*	1					PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.G1087*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.G1087*|PCDH9_ENST00000544246.1_Nonsense_Mutation_p.G1121*	p.G1121*			0	2	2	1.665391	Q9HC56	PCDH9_HUMAN		4	3495	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Nonsense_Mutation	SNP	ENST00000377865.2	0	1	hg19	c.3361G>T	CCDS9444.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.954328	0.99016	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	.	.	.	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.000000	0.48286	D	0.000197	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	1121;1121;1087;1087	.	ENSP00000332060:G1087X	G	-	1	0	0	PCDH9	65777141	65777141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.890000	0.99128	0.650000	0.86243	GGA	0.350000		TCGA-IB-8127-01A-11D-2396-08	0.428	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	1	0	1		2	2	2	0		0	0	50		50	50	1	3.330000	-3.547497	1	0.350000	NM_203487			45	45		189	186	1		1	0		0	0	50	0		1.000000	3.865408e-02	0	0	0	2	0	45	189
KIAA0586	9786	broad.mit.edu	37	14	58927860	58927860	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:58927860G>T	ENST00000556134.1	+	15	2270	c.1996G>T	c.(1996-1998)Gta>Tta	p.V666L	KIAA0586_ENST00000261244.5_Missense_Mutation_p.V605L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.V734L|KIAA0586_ENST00000423743.3_Missense_Mutation_p.V637L	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	666					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGACCAAAAGTAATAGAACG	0.323																																						ENST00000556134.1	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999934	0.990000	1.000000																										0				34						c.(1996-1998)Gta>Tta		KIAA0586							75.0	67.0	69.0					14																	58927860		1836	4091	5927	SO:0001583	missense	9786	0	0					g.chr14:58927860G>T	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.1996G>T	chr14.hg19:g.58927860G>T	ENSP00000452351:p.Val666Leu	1					KIAA0586_ENST00000261244.5_Missense_Mutation_p.V605L|KIAA0586_ENST00000354386.6_Missense_Mutation_p.V734L|KIAA0586_ENST00000423743.3_Missense_Mutation_p.V637L|KIAA0586_ENST00000538571.2_3'UTR	p.V666L	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	2	2	4	2.164920	Q9BVV6	TALD3_HUMAN		15	2270	+			B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	1	1	hg19	c.1996G>T	CCDS58321.1	1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970319	0.53614	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.8	3.93	0.45458	5.8	3.93	0.45458	.	0.098661	0.44483	N	0.000456	T	0.52289	0.1725	L	0.36672	1.1	0.36033	D	0.839523	B;B;D;P;B;B	0.56521	0.197;0.197;0.976;0.879;0.197;0.197	B;B;P;B;B;B	0.52424	0.062;0.062;0.698;0.36;0.062;0.062	T	0.62826	-0.6772	10	0.72032	D	0.01	.	11.1811	0.48629	0.0656:0.2395:0.6949:0.0	.	541;541;734;605;666;637	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	L	734;666;637;605;541	ENSP00000346359:V734L;ENSP00000452351:V666L;ENSP00000399427:V637L;ENSP00000261244:V605L	ENSP00000261244:V605L	V	+	1	0	0	KIAA0586	57997613	57997613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.740000	0.26188	0.751000	0.32900	0.650000	0.86243	GTA	0.513473		TCGA-IB-8127-01A-11D-2396-08	0.323	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	1	0	1		2	2	2	0		0	0	16		16	16	1	3.330000	-20.000000	1	0.350000	NM_014749			31	30		108	107	1		1	1		0	0	16	0		1.000000	9.888295e-01	0	9	0	19	0	31	108
NRXN3	9369	broad.mit.edu	37	14	80328016	80328016	+	Silent	SNP	G	G	A	rs535295435		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:80328016G>A	ENST00000557594.1	+	6	2576	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	NRXN3_ENST00000281127.7_Silent_p.T336T|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Silent_p.T363T|NRXN3_ENST00000335750.5_Silent_p.T965T|NRXN3_ENST00000554719.1_Silent_p.T965T	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	541					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.T965T(1)|p.T363T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAAACCCCACGGAGCCGGGAA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		16876	0.0		0.0	False		,,,				2504	0.001					ENST00000557594.1	1.000000	6.500000e-01	1	7.700000e-01	0.900000	0.889592	0.900000	1.000000																										2	Substitution - coding silent(2)	p.T965T(1)|p.T363T(1)	skin(2)	104						c.(1621-1623)acG>acA		neurexin 3							35.0	39.0	38.0					14																	80328016		2203	4300	6503	SO:0001819	synonymous_variant	9369	1	121412	34				g.chr14:80328016G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1623G>A	chr14.hg19:g.80328016G>A		1					NRXN3_ENST00000281127.7_Silent_p.T336T|NRXN3_ENST00000554719.1_Silent_p.T965T|NRXN3_ENST00000335750.5_Silent_p.T965T|NRXN3_ENST00000428277.2_Silent_p.T363T|NRXN3_ENST00000556003.1_3'UTR	p.T541T	NM_001272020.1	NP_001258949.1	2	2	4	2.164920	Q9HDB5	NRX3B_HUMAN		6	2576	+		Renal(4;0.00876)	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	1	1	hg19	c.1623G>A		1																																																																																								0.513473		TCGA-IB-8127-01A-11D-2396-08	0.597	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	1	0	1		2	2	2	0		0	0	52		52	51	1	3.330000	-3.221893	1	0.350000	NM_001105250			41	41		310	309	1		1	0		0	0	52	0		1.000000	3.977462e-02	0	0	0	3	0	41	310
CYP19A1	1588	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	390					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTTTGTCCCCTTTTTCACTGG	0.413																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1	0.100000	0	7.000000e-02	1.000000e-02	0.040000	0.048321	0.040000	0.030000																										0				33						c.(1168-1170)aAg>aGg		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)						190.0	173.0	179.0					15																	51504611		2196	4293	6489	SO:0001583	missense	1588	0	0					g.chr15:51504611T>C	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1169A>G	chr15.hg19:g.51504611T>C	ENSP00000379683:p.Lys390Arg	1					CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R	p.K390R	NM_000103.3	NP_000094.2	1	2	3	1.928734	P11511	CP19A_HUMAN		9	1322	-			Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	0	1	hg19	c.1169A>G	CCDS10139.1	0	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922211	0.52653	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	2.13	0.27403	6.06	2.13	0.27403	.	0.084915	0.85682	N	0.000000	T	0.69691	0.3139	L	0.58354	1.805	0.46279	D	0.998961	B	0.15141	0.012	B	0.27262	0.078	T	0.66152	-0.5995	10	0.52906	T	0.07	-23.6398	10.5475	0.45068	0.0:0.2114:0.0:0.7886	.	390	P11511	CP19A_HUMAN	R	390	ENSP00000379683:K390R;ENSP00000260433:K390R;ENSP00000379685:K390R	ENSP00000260433:K390R	K	-	2	0	0	CYP19A1	49291903	49291903	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.131000	0.50515	0.541000	0.28827	0.533000	0.62120	AAG	0.446809		TCGA-IB-8127-01A-11D-2396-08	0.413	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1	0	0	1		22	2	2	1		1	1	119		119	116	1	3.330000	-1.939015	0	0.350000				5	6		806	794	0		0			1	0	119	0		0.000600	0	0	0	0	0	0	5	806
CPPED1	55313	broad.mit.edu	37	16	12875142	12875142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:12875142C>A	ENST00000381774.4	-	2	429	c.189G>T	c.(187-189)caG>caT	p.Q63H	CPPED1_ENST00000261660.4_Missense_Mutation_p.Q63H|CPPED1_ENST00000433677.2_Missense_Mutation_p.Q63H	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	63	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GACGGATCTCCTGTTCCCATT	0.567																																						ENST00000381774.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(187-189)caG>caT		calcineurin-like phosphoesterase domain containing 1							114.0	121.0	118.0					16																	12875142		2077	4205	6282	SO:0001583	missense	55313	0	0					g.chr16:12875142C>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.189G>T	chr16.hg19:g.12875142C>A	ENSP00000371193:p.Gln63His	1					CPPED1_ENST00000433677.2_Missense_Mutation_p.Q63H|CPPED1_ENST00000261660.4_Missense_Mutation_p.Q63H	p.Q63H	NM_018340.2	NP_060810.2	3	3	6	2.254030	Q9BRF8	CPPED_HUMAN		2	429	-			B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	1	1	hg19	c.189G>T	CCDS42120.1	1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603337	0.46423	.	.	ENSG00000103381	ENST00000381774;ENST00000433677;ENST00000261660	T;T;T	0.03358	3.96;4.02;3.96	5.25	4.29	0.51040	5.25	4.29	0.51040	.	0.231983	0.42964	D	0.000630	T	0.08268	0.0206	L	0.56769	1.78	0.43885	D	0.996505	P;B	0.40875	0.731;0.01	P;B	0.47528	0.549;0.026	T	0.01814	-1.1268	10	0.62326	D	0.03	-22.7053	10.8774	0.46919	0.0:0.9093:0.0:0.0907	.	63;63	Q9BRF8-2;Q9BRF8	.;CPPED_HUMAN	H	63	ENSP00000371193:Q63H;ENSP00000411127:Q63H;ENSP00000261660:Q63H	ENSP00000261660:Q63H	Q	-	3	2	2	CPPED1	12782643	12782643	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	2.390000	0.44416	2.450000	0.82876	0.563000	0.77884	CAG	0.533046		TCGA-IB-8127-01A-11D-2396-08	0.567	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	1	0	1		2	2	2	0		0	0	49		49	49	1	3.330000	-5.914900	1	0.350000	NM_018340			71	68		185	182	1		1	0		0	0	49	0		1.000000	1	0	0	0	110	0	71	185
C16orf62	57020	broad.mit.edu	37	16	19621689	19621689	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:19621689G>A	ENST00000251143.5	+	12	987	c.975G>A	c.(973-975)ggG>ggA	p.G325G	C16orf62_ENST00000543152.1_Silent_p.G74G|C16orf62_ENST00000417362.2_Silent_p.G325G|C16orf62_ENST00000542263.1_Silent_p.G414G|C16orf62_ENST00000438132.3_Silent_p.G414G|C16orf62_ENST00000448695.1_Silent_p.G175G			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	325						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGATCAGAGGGATCGGAGACC	0.572																																						ENST00000251143.5	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				36						c.(973-975)ggG>ggA		chromosome 16 open reading frame 62							113.0	86.0	95.0					16																	19621689		2197	4300	6497	SO:0001819	synonymous_variant	57020	0	0					g.chr16:19621689G>A		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.975G>A	chr16.hg19:g.19621689G>A		1					C16orf62_ENST00000448695.1_Silent_p.G175G|C16orf62_ENST00000543152.1_Silent_p.G74G|C16orf62_ENST00000438132.3_Silent_p.G414G|C16orf62_ENST00000417362.2_Silent_p.G325G|C16orf62_ENST00000542263.1_Silent_p.G414G	p.G325G			2	2	4	2.223094	Q7Z3J2	CP062_HUMAN		12	987	+			A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	1	1	hg19	c.975G>A		1																																																																																								0.518519		TCGA-IB-8127-01A-11D-2396-08	0.572	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	36		36	36	1	3.330000	-20.000000	1	0.350000	NM_020314			65	64		172	167	1		1	1		0	0	36	0		1.000000	1	0	51	0	91	0	65	172
SPNS3	201305	broad.mit.edu	37	17	4348390	4348390	+	Missense_Mutation	SNP	G	G	A	rs534675538		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:4348390G>A	ENST00000355530.2	+	3	609	c.329G>A	c.(328-330)cGc>cAc	p.R110H	SPNS3_ENST00000333476.2_Intron|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	110					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGACATAGCCGCAAGGCTACC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19666	0.0		0.0	False		,,,				2504	0.001					ENST00000355530.2	0.100000	1.000000e-02	8.000000e-02	3.000000e-02	0.050000	0.058657	0.050000	0.060000																										0				28						c.(328-330)cGc>cAc		spinster homolog 3 (Drosophila)							184.0	147.0	160.0					17																	4348390		2203	4300	6503	SO:0001583	missense	201305	4	121412	45				g.chr17:4348390G>A		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.329G>A	chr17.hg19:g.4348390G>A	ENSP00000347721:p.Arg110His	1					SPNS3_ENST00000333476.2_Intron|SPNS3_ENST00000576069.1_Intron	p.R110H	NM_182538.4	NP_872344.3	0	2	2	1.683566	Q6ZMD2	SPNS3_HUMAN		3	609	+			Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	0	1	hg19	c.329G>A	CCDS11045.1	0	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522058	0.64747	.	.	ENSG00000182557	ENST00000355530	T	0.67345	-0.26	4.51	4.51	0.55191	4.51	4.51	0.55191	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89136	0.3513	10	0.87932	D	0	-27.825	15.5243	0.75890	0.0:0.0:1.0:0.0	.	110	Q6ZMD2	SPNS3_HUMAN	H	110	ENSP00000347721:R110H	ENSP00000347721:R110H	R	+	2	0	0	SPNS3	4295139	4295139	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.349000	0.97066	2.446000	0.82766	0.561000	0.74099	CGC	0.350000		TCGA-IB-8127-01A-11D-2396-08	0.612	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	0	0	1		2	2	2	0		0	0	181		181	180	1	3.330000	-1.819676	0	0.350000	NM_182538			7	7		769	760	0		1	0		0	0	181	0		0.979822	6.988969e-04	0	0	0	4	0	7	769
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:37881332G>A	ENST00000269571.5	+	21	2683	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000269571.5	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999740	0.990000	1.000000		1		Dom	yes			Dom	yes		17	17q21.1	17q21.1	2064	A, Mis, O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""				E	E			breast, ovarian, other tumour types, NSCLC, gastric		6	Substitution - Missense(6)	p.V842I(6)	large_intestine(5)|stomach(1)	247						c.(2524-2526)Gta>Ata		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)						70.0	61.0	64.0					17																	37881332		2203	4300	6503	SO:0001583	missense	2064	0	0					g.chr17:37881332G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2524G>A	chr17.hg19:g.37881332G>A	ENSP00000269571:p.Val842Ile	1	TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I	p.V842I			1	3	4	2.017476	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	21	2683	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	1	1	hg19	c.2524G>A	CCDS32642.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	0	ERBB2	35134858	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA	0.458108		TCGA-IB-8127-01A-11D-2396-08	0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1		2	2	2	0		0	0	60		60	60	1	3.330000	-3.159312	1	0.350000				79	78		342	333	1		1	1		0	0	60	0		1.000000	1	0	109	0	303	0	79	342
TNFSF12	8742	broad.mit.edu	37	17	7460597	7460597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7460597G>A	ENST00000293825.6	+	7	943	c.680G>A	c.(679-681)cGc>cAc	p.R227H	TNFSF13_ENST00000396545.4_5'Flank|TNFSF12_ENST00000557233.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000380535.4_5'Flank|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000396542.1_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	227					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTGCGGATCCGCACCCTCCCC	0.677																																						ENST00000293825.6	0.190000	3.000000e-02	1.500000e-01	6.000000e-02	0.090000	0.108424	0.090000	0.100000																										0				11						c.(679-681)cGc>cAc		tumor necrosis factor (ligand) superfamily, member 12							45.0	42.0	43.0					17																	7460597		2203	4298	6501	SO:0001583	missense	8742	3	121396	34				g.chr17:7460597G>A	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.680G>A	chr17.hg19:g.7460597G>A	ENSP00000293825:p.Arg227His	1					TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000380535.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank	p.R227H	NM_003809.2	NP_003800.1	0	2	2	1.675089	O43508	TNF12_HUMAN		7	943	+		Prostate(122;0.157)	Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	ENST00000293825.6	0	1	hg19	c.680G>A	CCDS11109.1	0	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203583	0.79127	.	.	ENSG00000239697	ENST00000293825	D	0.94417	-3.42	4.76	2.58	0.30949	4.76	2.58	0.30949	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	.	.	.	.	D	0.94679	0.8284	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93286	0.6664	9	0.41790	T	0.15	.	12.3257	0.55009	0.0:0.0:0.695:0.305	.	227	O43508	TNF12_HUMAN	H	227	ENSP00000293825:R227H	ENSP00000293825:R227H	R	+	2	0	0	TNFSF12	7401321	7401321	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.653000	0.46691	1.127000	0.42034	0.561000	0.74099	CGC	0.350000		TCGA-IB-8127-01A-11D-2396-08	0.677	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	0	0	1		2	2	2	0		0	0	74		74	73	1	3.330000	-2.716136	1	0.350000	NM_003809			6	6		359	351	0		1	0		0	0	74	0		0.962825	9.190987e-01	0	0	0	270	0	6	359
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999987	0.990000	1.000000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	1	121412	37	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	chr17.hg19:g.7577121G>A	ENSP00000269305:p.Arg273Cys	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	0	2	2	1.675089	P04637	P53_HUMAN		8	1006	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.817C>T	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	0	TP53	7517846	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	0.350000		TCGA-IB-8127-01A-11D-2396-08	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		2	2	2	0		0	0	34		34	34	1	3.330000	-20.000000	1	0.350000	NM_000546			38	38		88	84	1		1	1	1	0	0	34	1139		1.000000	1	1	65	206	50	391	38	88
RNF43	54894	broad.mit.edu	37	17	56437563	56437563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:56437563T>C	ENST00000584437.1	-	7	2854	c.899A>G	c.(898-900)gAc>gGc	p.D300G	RNF43_ENST00000577625.1_Missense_Mutation_p.D173G|RNF43_ENST00000583753.1_Missense_Mutation_p.D259G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.D259G|RNF43_ENST00000581868.1_Missense_Mutation_p.D173G|RNF43_ENST00000577716.1_Missense_Mutation_p.D300G|RNF43_ENST00000407977.2_Missense_Mutation_p.D300G			Q68DV7	RNF43_HUMAN	ring finger protein 43	300					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAACCAGGGGTCCACACAGTT	0.532																																						ENST00000584437.1	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				60						c.(898-900)gAc>gGc		ring finger protein 43							143.0	116.0	125.0					17																	56437563		2203	4300	6503	SO:0001583	missense	54894	0	0					g.chr17:56437563T>C		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.899A>G	chr17.hg19:g.56437563T>C	ENSP00000463069:p.Asp300Gly	1					RNF43_ENST00000407977.2_Missense_Mutation_p.D300G|RNF43_ENST00000583753.1_Missense_Mutation_p.D259G|RNF43_ENST00000500597.2_Missense_Mutation_p.D259G|RNF43_ENST00000581868.1_Missense_Mutation_p.D173G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.D300G|RNF43_ENST00000577625.1_Missense_Mutation_p.D173G	p.D300G			0	2	2	1.688006	Q68DV7	RNF43_HUMAN		7	2854	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	1	1	hg19	c.899A>G	CCDS11607.1	1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038923	0.93630	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.61274	0.12;0.12	5.09	5.09	0.68999	5.09	5.09	0.68999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.110516	0.64402	D	0.000014	T	0.73900	0.3646	M	0.77103	2.36	0.58432	D	0.999998	P;D;D	0.60575	0.913;0.988;0.982	P;P;P	0.62740	0.767;0.906;0.762	T	0.78319	-0.2250	10	0.87932	D	0	-12.8846	14.0453	0.64702	0.0:0.0:0.0:1.0	.	259;300;300	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	G	300;259	ENSP00000385328:D300G;ENSP00000441969:D259G	ENSP00000385328:D300G	D	-	2	0	0	RNF43	53792562	53792562	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.649000	0.83500	1.925000	0.55765	0.454000	0.30748	GAC	0.350000		TCGA-IB-8127-01A-11D-2396-08	0.532	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1		17	4	4	1		1	1	100		100	100	1	3.330000	-20.000000	1	0.350000	NM_017763			152	151		348	343	1		1	1	1	1	1	100	511		1.000000	9.999987e-01	1	62	104	1	215	152	348
ZNF521	25925	broad.mit.edu	37	18	22805518	22805518	+	Silent	SNP	G	G	A	rs28689581	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr18:22805518G>A	ENST00000361524.3	-	4	2512	c.2364C>T	c.(2362-2364)tgC>tgT	p.C788C	ZNF521_ENST00000538137.2_Silent_p.C788C|ZNF521_ENST00000584787.1_Silent_p.C568C|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	788					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGACTCACCGCAGAAAATGC	0.493			T	PAX5	ALL								G|||	83	0.0165735	0.034	0.0014	5008	,	,		22123	0.0367		0.0	False		,,,				2504	0.0					ENST00000361524.3			0	0								Dom	yes			Dom	yes		18	18q11.2	18q11.2	25925	T	zinc finger protein 521				L	L	PAX5		ALL		0				149						c.(2362-2364)tgC>tgT		zinc finger protein 521		G		109,4297	84.8+/-123.5	0,109,2094	148.0	129.0	136.0		2364	-10.4	0.1	18	dbSNP_125	136	0,8600		0,0,4300	no	coding-synonymous	ZNF521	NM_015461.2		0,109,6394	AA,AG,GG		0.0,2.4739,0.8381		788/1312	22805518	109,12897	2203	4300	6503	SO:0001819	synonymous_variant	25925	527	121412	60				g.chr18:22805518G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2364C>T	chr18.hg19:g.22805518G>A							ZNF521_ENST00000538137.2_Silent_p.C788C|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.C568C	p.C788C	NM_015461.2	NP_056276.1					Q96K83	ZN521_HUMAN		4	2512	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	1	0	hg19	c.2364C>T	CCDS32806.1																																																																																											TCGA-IB-8127-01A-11D-2396-08	0.493	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1		2	2	2	0		0	0	84		84	84	1	3.330000	-2.879460	1	0.350000	NM_015461			83	83		566	558	1		1	0		0	0	84	0		1.000000	9.655219e-01	0	0	0	39	0	83	566
ZNRF4	148066	broad.mit.edu	37	19	5456673	5456673	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:5456673C>T	ENST00000222033.4	+	1	1248	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	391						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGTCCAGCTACGCTCCCGGAG	0.657																																						ENST00000222033.4	1.000000	8.300000e-01	1	9.400000e-01	0.990000	0.980593	0.990000	1.000000																										0				16						c.(1171-1173)Cgc>Tgc		zinc and ring finger 4							31.0	36.0	34.0					19																	5456673		1986	4158	6144	SO:0001583	missense	148066	1	120884	29				g.chr19:5456673C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1171C>T	chr19.hg19:g.5456673C>T	ENSP00000222033:p.Arg391Cys	1						p.R391C	NM_181710.3	NP_859061.3	1	2	3	1.970622	Q8WWF5	ZNRF4_HUMAN		1	1248	+			A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	1	1	hg19	c.1171C>T	CCDS42475.1	1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211845	0.39102	.	.	ENSG00000105428	ENST00000222033	T	0.05319	3.46	3.47	3.47	0.39725	3.47	3.47	0.39725	.	0.172241	0.34435	U	0.003970	T	0.13713	0.0332	L	0.32530	0.975	0.40657	D	0.982097	D	0.89917	1.0	D	0.75020	0.985	T	0.02477	-1.1153	10	0.62326	D	0.03	-27.0721	11.1698	0.48565	0.0:1.0:0.0:0.0	.	391	Q8WWF5	ZNRF4_HUMAN	C	391	ENSP00000222033:R391C	ENSP00000222033:R391C	R	+	1	0	0	ZNRF4	5407673	5407673	0.977000	0.34250	1.000000	0.80357	0.045000	0.14185	1.309000	0.33539	1.891000	0.54761	0.561000	0.74099	CGC	0.446809		TCGA-IB-8127-01A-11D-2396-08	0.657	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	1	0	1		2	2	2	0		0	0	71		71	71	1	3.330000	-20.000000	1	0.350000	NM_181710			56	56		293	287	1		1			0	0	71	0		1.000000	0	0	0	0	0	0	56	293
ATP1A3	478	broad.mit.edu	37	19	42480634	42480634	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:42480634G>A	ENST00000302102.5	-	15	2178	c.2028C>T	c.(2026-2028)acC>acT	p.T676T	ATP1A3_ENST00000602133.1_Silent_p.T646T|ATP1A3_ENST00000543770.1_Silent_p.T687T|ATP1A3_ENST00000545399.1_Silent_p.T689T	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	676					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGACGATCTCGGTGTGATTCT	0.622																																						ENST00000302102.5	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				52						c.(2026-2028)acC>acT		ATPase, Na+/K+ transporting, alpha 3 polypeptide							187.0	139.0	155.0					19																	42480634		2203	4300	6503	SO:0001819	synonymous_variant	478	1	121412	29				g.chr19:42480634G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2028C>T	chr19.hg19:g.42480634G>A		1					ATP1A3_ENST00000602133.1_Silent_p.T646T|ATP1A3_ENST00000545399.1_Silent_p.T689T|ATP1A3_ENST00000543770.1_Silent_p.T687T	p.T676T	NM_152296.4	NP_689509.1	3	3	6	2.271022	P13637	AT1A3_HUMAN		15	2178	-			B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	1	1	hg19	c.2028C>T	CCDS12594.1	1																																																																																								0.535382		TCGA-IB-8127-01A-11D-2396-08	0.622	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	1	0	1		2	2	2	0		0	0	71		71	70	1	3.330000	-7.009313	1	0.350000	NM_152296			118	117		316	313	1		1	0		0	0	71	0		1.000000	0	0	1	0	0	0	118	316
VWA1	64856	broad.mit.edu	37	1	1374492	1374492	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1374492G>A	ENST00000476993.1	+	3	741	c.663G>A	c.(661-663)acG>acA	p.T221T	VWA1_ENST00000404702.3_Silent_p.T9T|VWA1_ENST00000338660.5_3'UTR	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	221	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCATGCCACGGAGATCACGT	0.711																																						ENST00000476993.1	1.000000	3.900000e-01	1	5.300000e-01	0.730000	0.753450	0.730000	1.000000																										0				8						c.(661-663)acG>acA		von Willebrand factor A domain containing 1							13.0	14.0	14.0					1																	1374492		2157	4260	6417	SO:0001819	synonymous_variant	64856	3	120026	30				g.chr1:1374492G>A	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.663G>A	chr1.hg19:g.1374492G>A		1					VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T9T	p.T221T	NM_022834.4	NP_073745.2	2	2	4	1.868805	Q6PCB0	VWA1_HUMAN		3	741	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)|Lung SC(97;0.128)	A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Silent	SNP	ENST00000476993.1	1	1	hg19	c.663G>A	CCDS27.1	0																																																																																								0.438445		TCGA-IB-8127-01A-11D-2396-08	0.711	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	1	0	1		2	2	2	0		0	0	24		24	24	1	3.330000	-19.419930	1	0.350000	NM_022834			13	13		120	118	1		1	1		0	0	24	0		0.999583	1	0	57	0	330	0	13	120
ACP6	51205	broad.mit.edu	37	1	147131792	147131792	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:147131792G>A	ENST00000369238.6	-	2	765	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ACP6_ENST00000392988.2_Silent_p.Y106Y	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	106	Substrate binding. {ECO:0000250}.				dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ATTGAGAGTCGTAAGGAGAAT	0.507																																						ENST00000369238.6	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(316-318)taC>taT		acid phosphatase 6, lysophosphatidic							104.0	102.0	103.0					1																	147131792		2203	4300	6503	SO:0001819	synonymous_variant	51205	4	121412	37				g.chr1:147131792G>A	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.318C>T	chr1.hg19:g.147131792G>A		1					ACP6_ENST00000392988.2_Silent_p.Y106Y	p.Y106Y	NM_016361.3	NP_057445.4	3	3	6	2.255618	Q9NPH0	PPA6_HUMAN		2	765	-	all_hematologic(923;0.0276)		Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Silent	SNP	ENST00000369238.6	1	1	hg19	c.318C>T	CCDS928.1	1																																																																																								0.533046		TCGA-IB-8127-01A-11D-2396-08	0.507	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	1	0	1		2	2	2	0		0	0	59		59	59	1	3.330000	-20.000000	1	0.350000	NM_016361			100	99		286	283	0		1	1		0	0	59	0		1.000000	1	0	19	0	58	0	100	286
PSMB4	5692	broad.mit.edu	37	1	151372491	151372491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:151372491G>A	ENST00000290541.6	+	2	229	c.175G>A	c.(175-177)Gtt>Att	p.V59I		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTCCTCGGCGTTAAGTTCGA	0.592																																						ENST00000290541.6	0.140000	1.000000e-02	1.000000e-01	3.000000e-02	0.060000	0.074091	0.060000	0.080000																										0				14						c.(175-177)Gtt>Att		proteasome (prosome, macropain) subunit, beta type, 4							96.0	97.0	97.0					1																	151372491		2203	4300	6503	SO:0001583	missense	5692	0	0					g.chr1:151372491G>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.175G>A	chr1.hg19:g.151372491G>A	ENSP00000290541:p.Val59Ile	1						p.V59I	NM_002796.2	NP_002787.2	2	2	4	2.214488	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)	2	229	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	0	1	hg19	c.175G>A	CCDS996.1	0	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166446	0.21621	.	.	ENSG00000159377	ENST00000290541	T	0.28255	1.62	5.34	4.42	0.53409	5.34	4.42	0.53409	Proteasome, beta-type subunit, conserved site (1);	0.057731	0.64402	D	0.000001	T	0.04543	0.0124	N	0.03903	-0.33	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.17098	0.012;0.017	T	0.26815	-1.0092	10	0.02654	T	1	-15.3311	14.7134	0.69249	0.0:0.146:0.854:0.0	.	59;59	B4DFL3;P28070	.;PSB4_HUMAN	I	59	ENSP00000290541:V59I	ENSP00000290541:V59I	V	+	1	0	0	PSMB4	149639115	149639115	1.000000	0.71417	0.712000	0.30502	0.997000	0.91878	4.476000	0.60216	1.232000	0.43678	0.561000	0.74099	GTT	0.518519		TCGA-IB-8127-01A-11D-2396-08	0.592	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	0	0	1		2	2	2	0		0	0	136		136	131	1	3.330000	-2.483483	0	0.350000	NM_002796			7	7		815	805	0		1	0		0	0	136	0		0.979769	9.980575e-01	0	0	0	1420	0	7	815
FLG	2312	broad.mit.edu	37	1	152280068	152280068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:152280068C>T	ENST00000368799.1	-	3	7329	c.7294G>A	c.(7294-7296)Ggg>Agg	p.G2432R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2432	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTGGTCCCGGTCCGTCCA	0.592									Ichthyosis																													ENST00000368799.1	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				424						c.(7294-7296)Ggg>Agg		filaggrin							264.0	243.0	250.0					1																	152280068		2203	4300	6503	SO:0001583	missense	2312	4	121412	44	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	g.chr1:152280068C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7294G>A	chr1.hg19:g.152280068C>T	ENSP00000357789:p.Gly2432Arg	1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2432R	NM_002016.1	NP_002007.1	2	2	4	2.214488	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	7329	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	1	1	hg19	c.7294G>A	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291031	0.23564	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	4.37	-6.56	0.01848	4.37	-6.56	0.01848	.	.	.	.	.	T	0.00300	0.0009	N	0.21448	0.665	0.09310	N	1	B	0.27013	0.166	B	0.16289	0.015	T	0.47935	-0.9078	9	0.14656	T	0.56	.	1.9786	0.03421	0.1118:0.2438:0.3309:0.3135	.	2432	P20930	FILA_HUMAN	R	2432	ENSP00000357789:G2432R	ENSP00000357789:G2432R	G	-	1	0	0	FLG	150546692	150546692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.200000	0.03029	-1.351000	0.02197	-2.865000	0.00100	GGG	0.518519		TCGA-IB-8127-01A-11D-2396-08	0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	1		23	2	2	1		1	1	343		343	340	1	3.330000	-17.278260	1	0.350000	NM_002016			643	639		1774	1759	1		1	0		1	0	343	0		1.000000	0	0	0	0	1	0	643	1774
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL																																	ENST00000368395.1	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999991	0.990000	1.000000				Dom	yes			Dom	yes		1	1q21	1q21	4582	T	"""mucin 1, transmembrane"""				L	L	IGH@		B-NHL		0				10						c.(334-336)Acc>Ccc		mucin 1, cell surface associated																																				SO:0001583	missense	4582	181	120668	36				g.chr1:155161799T>G	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.334A>C	chr1.hg19:g.155161799T>G	ENSP00000357380:p.Thr112Pro	1					RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron	p.T112P	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	2	2	4	2.214488	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)	2	405	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	0	1	hg19	c.334A>C	CCDS55640.1	1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808546	0.16467	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.73	0.35	0.16037	2.73	0.35	0.16037	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.1844	0.06596	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	0	MUC1	153428423	153428423	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.417000	0.07088	0.027000	0.15297	-1.038000	0.02383	ACC	0.518519		TCGA-IB-8127-01A-11D-2396-08	0.711	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	0	0	1		15	60	2	1		1	1	23		23	22	1	3.330000	-2.663877	1	0.350000	NM_002456			28	27		82	78	0		1	1		1	0	23	0		0.986001	9.999948e-01	0	69	0	550	0	28	82
GABRD	2563	broad.mit.edu	37	1	1961126	1961126	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1961126C>T	ENST00000378585.4	+	8	1067	c.984C>T	c.(982-984)taC>taT	p.Y328Y		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	328					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGTGGAGTACGCCTTTGCTC	0.612																																						ENST00000378585.4	1.000000	5.200000e-01	1	6.300000e-01	0.770000	0.793561	0.770000	0.730000																										0				20						c.(982-984)taC>taT		gamma-aminobutyric acid (GABA) A receptor, delta	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)						129.0	114.0	119.0					1																	1961126		2200	4300	6500	SO:0001819	synonymous_variant	2563	1	121348	32				g.chr1:1961126C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.984C>T	chr1.hg19:g.1961126C>T		1						p.Y328Y	NM_000815.4	NP_000806.2	2	3	5	1.844463	O14764	GBRD_HUMAN		8	1067	+	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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)	Q8N4N9	Silent	SNP	ENST00000378585.4	1	1	hg19	c.984C>T	CCDS36.1	0																																																																																								0.428069		TCGA-IB-8127-01A-11D-2396-08	0.612	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	1	0	0		2	2	2	0		0	0	64		64	64	1	3.330000	-20.000000	1	0.350000	NM_000815			32	32		251	247	1		1	0		0	0	64	0		1.000000	3.250425e-01	0	0	0	10	0	32	251
EPHA8	2046	broad.mit.edu	37	1	22925390	22925390	+	Silent	SNP	C	C	T	rs560800908		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:22925390C>T	ENST00000166244.3	+	13	2310	c.2238C>T	c.(2236-2238)gcC>gcT	p.A746A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGTGGGTGCCGGCATGCGCT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17406	0.0		0.0	False		,,,				2504	0.001					ENST00000166244.3	1.000000	6.100000e-01	1	7.700000e-01	0.990000	0.912953	0.990000	1.000000																										0				61						c.(2236-2238)gcC>gcT		EPH receptor A8							65.0	57.0	60.0					1																	22925390		2201	4300	6501	SO:0001819	synonymous_variant	2046	13	121364	40				g.chr1:22925390C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2238C>T	chr1.hg19:g.22925390C>T		1						p.A746A	NM_020526.3	NP_065387.1	1	2	3	1.835520	P29322	EPHA8_HUMAN		13	2310	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	1	1	hg19	c.2238C>T	CCDS225.1	1																																																																																								0.415468		TCGA-IB-8127-01A-11D-2396-08	0.627	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1		2	2	2	0		0	0	34		34	34	1	3.330000	-3.342141	1	0.350000	NM_020526			20	20		119	117	1		1			0	0	34	0		0.999997	0	0	0	0	0	0	20	119
SERINC2	347735	broad.mit.edu	37	1	31899619	31899619	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:31899619C>T	ENST00000373709.3	+	6	879	c.729C>T	c.(727-729)aaC>aaT	p.N243N	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Silent_p.N247N|SERINC2_ENST00000536859.1_Silent_p.N247N|SERINC2_ENST00000373710.1_Silent_p.N252N	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	243					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TCAGCCTCAACCTCACCTTCT	0.622																																						ENST00000373709.3	1.000000	9.200000e-01	1	9.900000e-01	0.990000	0.994084	0.990000	1.000000																										0				12						c.(727-729)aaC>aaT		serine incorporator 2							214.0	191.0	199.0					1																	31899619		2203	4300	6503	SO:0001819	synonymous_variant	347735	0	0					g.chr1:31899619C>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.729C>T	chr1.hg19:g.31899619C>T		1					SERINC2_ENST00000536384.1_Silent_p.N247N|SERINC2_ENST00000536859.1_Silent_p.N247N|SERINC2_ENST00000373710.1_Silent_p.N252N|SERINC2_ENST00000491976.1_3'UTR	p.N243N	NM_178865.4	NP_849196.2	1	2	3	1.835520	Q96SA4	SERC2_HUMAN		6	879	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	ENST00000373709.3	1	1	hg19	c.729C>T	CCDS30662.1	1																																																																																								0.415468		TCGA-IB-8127-01A-11D-2396-08	0.622	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	1	0	1		2	2	2	0		0	0	199		199	197	1	3.330000	-20.000000	1	0.350000	NM_018565			193	190		968	959	0		1	1		0	0	199	0		1.000000	1	0	525	0	864	0	193	968
HMCN1	83872	broad.mit.edu	37	1	185902879	185902879	+	Missense_Mutation	SNP	A	A	G	rs143393655		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:185902879A>G	ENST00000271588.4	+	11	1980	c.1751A>G	c.(1750-1752)aAc>aGc	p.N584S	HMCN1_ENST00000367492.2_Missense_Mutation_p.N584S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	584	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGAAATTCAACGATGCTGGA	0.463													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18642	0.0		0.0	False		,,,				2504	0.0					ENST00000271588.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				308						c.(1750-1752)aAc>aGc		hemicentin 1		A	SER/ASN	0,4406		0,0,2203	155.0	148.0	150.0		1751	-3.4	0.0	1	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	584/5636	185902879	1,13005	2203	4300	6503	SO:0001583	missense	83872	7	121412	43				g.chr1:185902879A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1751A>G	chr1.hg19:g.185902879A>G	ENSP00000271588:p.Asn584Ser	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.N584S	p.N584S	NM_031935.2	NP_114141.2	2	2	4	2.214488	Q96RW7	HMCN1_HUMAN		11	1980	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	1	1	hg19	c.1751A>G	CCDS30956.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	0.109	-1.141427	0.01728	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.23950	1.88;1.88	5.67	-3.39	0.04868	5.67	-3.39	0.04868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.763207	0.13136	N	0.411053	T	0.04679	0.0127	N	0.00783	-1.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38972	-0.9636	10	0.07990	T	0.79	.	2.6597	0.05023	0.2194:0.4469:0.1585:0.1752	.	584	Q96RW7	HMCN1_HUMAN	S	584	ENSP00000271588:N584S;ENSP00000356462:N584S	ENSP00000271588:N584S	N	+	2	0	0	HMCN1	184169502	184169502	0.000000	0.05858	0.001000	0.08648	0.545000	0.35147	-0.230000	0.09083	-0.188000	0.10499	-0.242000	0.12053	AAC	0.518519		TCGA-IB-8127-01A-11D-2396-08	0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1		2	2	2	0		0	0	110		110	110	1	3.330000	-20.000000	1	0.350000	NM_031935			174	172		511	509	1		1	0		0	0	110	0		1.000000	3.763574e-01	0	0	0	5	0	174	511
NOL4L	140688	broad.mit.edu	37	20	31043974	31043974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:31043974C>T	ENST00000359676.5	-	3	476	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		112						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCGTCGGCACCGCAGCCATCC	0.652																																						ENST00000359676.5	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				15						c.(334-336)Ggt>Agt									61.0	64.0	63.0					20																	31043974		2203	4298	6501	SO:0001583	missense	0	1	121324	35				g.chr20:31043974C>T																												ENST00000359676.5:c.334G>A	chr20.hg19:g.31043974C>T	ENSP00000352704:p.Gly112Ser	1					RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	p.G112S	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	2	2	4	2.202238	Q96MY1	NOL4L_HUMAN		3	476	-			Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	1	1	hg19	c.334G>A	CCDS13202.1	1	.	.	.	.	.	.	.	.	.	.	C	3.429	-0.116427	0.06881	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	4.98	-0.0961	0.13638	4.98	-0.0961	0.13638	.	0.486110	0.19807	N	0.105638	T	0.15478	0.0373	N	0.02011	-0.69	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.14699	-1.0463	9	0.08599	T	0.76	-3.2168	7.111	0.25390	0.0:0.312:0.0:0.688	.	112	Q96MY1	CT112_HUMAN	S	112	.	ENSP00000352704:G112S	G	-	1	0	0	C20orf112	30507635	30507635	0.003000	0.15002	0.036000	0.18154	0.019000	0.09904	-0.563000	0.05943	0.071000	0.16664	-0.367000	0.07326	GGT	0.518519		TCGA-IB-8127-01A-11D-2396-08	0.652	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2	1	0	1		2	2	2	0		0	0	117		117	114	1	3.330000	-8.496379	1	0.350000				214	212		589	585	1		1	1		0	0	117	0		1.000000	9.999928e-01	0	20	0	29	0	214	589
KCNB1	3745	broad.mit.edu	37	20	48098546	48098546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:48098546G>A	ENST00000371741.4	-	1	638	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	158					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCGCCTTCCCGCTCCCGTAGG	0.582																																						ENST00000371741.4	0.150000	2.000000e-02	1.200000e-01	5.000000e-02	0.080000	0.091187	0.080000	0.080000																										0				53						c.(472-474)Cgg>Tgg		potassium voltage-gated channel, Shab-related subfamily, member 1	Dalfampridine(DB06637)						173.0	141.0	152.0					20																	48098546		2203	4300	6503	SO:0001583	missense	3745	0	0					g.chr20:48098546G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.472C>T	chr20.hg19:g.48098546G>A	ENSP00000360806:p.Arg158Trp	1						p.R158W	NM_004975.2	NP_004966.1	2	2	4	2.202238	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	1	638	-			Q14193	Missense_Mutation	SNP	ENST00000371741.4	0	1	hg19	c.472C>T	CCDS13418.1	0	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774548	0.49786	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96685	-4.09	5.15	4.19	0.49359	5.15	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.97309	0.9120	M	0.67397	2.05	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	D	0.97675	1.0169	10	0.87932	D	0	.	12.9275	0.58268	0.0:0.0:0.652:0.348	.	158	Q14721	KCNB1_HUMAN	W	158;113	ENSP00000360806:R158W	ENSP00000360806:R158W	R	-	1	2	2	KCNB1	47531953	47531953	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.892000	0.48625	1.380000	0.46344	-0.311000	0.09066	CGG	0.518519		TCGA-IB-8127-01A-11D-2396-08	0.582	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	0	0	1		2	2	2	0		0	0	130		130	128	1	3.330000	-2.121277	0	0.350000	NM_004975			9	9		839	829	0		1	0		0	0	130	0		0.993914	0	0	0	0	1	0	9	839
BIRC7	79444	broad.mit.edu	37	20	61867525	61867525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:61867525C>T	ENST00000217169.3	+	1	291	c.77C>T	c.(76-78)aCg>aTg	p.T26M	MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000342412.6_Missense_Mutation_p.T26M|BIRC7_ENST00000395306.1_5'Flank	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	26					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GATGGTCCCACGCAGGAGCGC	0.662																																						ENST00000217169.3	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999765	0.990000	1.000000																										0				12						c.(76-78)aCg>aTg		baculoviral IAP repeat containing 7							16.0	15.0	15.0					20																	61867525		2182	4288	6470	SO:0001583	missense	79444	1	120378	29				g.chr20:61867525C>T	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.77C>T	chr20.hg19:g.61867525C>T	ENSP00000217169:p.Thr26Met	1					BIRC7_ENST00000342412.6_Missense_Mutation_p.T26M|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_5'Flank	p.T26M	NM_139317.1	NP_647478.1	2	2	4	2.202238	Q96CA5	BIRC7_HUMAN		1	291	+	all_cancers(38;2.72e-09)		Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	0	1	hg19	c.77C>T	CCDS13513.1	1	.	.	.	.	.	.	.	.	.	.	c	9.412	1.080830	0.20309	.	.	ENSG00000101197	ENST00000342412;ENST00000217169	T;T	0.57273	0.63;0.41	4.73	-1.7	0.08159	4.73	-1.7	0.08159	.	1.838210	0.03858	N	0.273537	T	0.30230	0.0758	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.008;0.009;0.01	B;B;B	0.06405	0.002;0.001;0.002	T	0.08269	-1.0730	10	0.28530	T	0.3	.	1.6898	0.02849	0.157:0.1752:0.156:0.5119	.	26;26;26	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	M	26	ENSP00000345213:T26M;ENSP00000217169:T26M	ENSP00000217169:T26M	T	+	2	0	0	BIRC7	61337970	61337970	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.061000	0.14366	-0.160000	0.11002	0.506000	0.49869	ACG	0.518519		TCGA-IB-8127-01A-11D-2396-08	0.662	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	1	0	1		2	2	2	0		0	0	8		8	8	1	3.330000	-20.000000	1	0.350000	NM_139317			17	17		51	49	0		1	1		0	0	8	0		0.999982	9.969305e-01	0	13	0	20	0	17	51
CNTNAP5	129684	broad.mit.edu	37	2	125367458	125367458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:125367458G>A	ENST00000431078.1	+	12	2198	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	612	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGATGGCAGCGGCCCACTGGG	0.532																																						ENST00000431078.1	1.000000	5.900000e-01	9.200000e-01	6.900000e-01	0.790000	0.802997	0.790000	0.790000																										0				176						c.(1834-1836)Ggc>Agc		contactin associated protein-like 5							70.0	70.0	70.0					2																	125367458		1877	4111	5988	SO:0001583	missense	129684	2	120836	35				g.chr2:125367458G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1834G>A	chr2.hg19:g.125367458G>A	ENSP00000399013:p.Gly612Ser	1						p.G612S	NM_130773.2	NP_570129.1	2	2	4	2.165928	Q8WYK1	CNTP5_HUMAN		12	2198	+			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	1	1	hg19	c.1834G>A	CCDS46401.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.332205	0.95733	.	.	ENSG00000155052	ENST00000431078	T	0.59772	0.24	5.66	5.66	0.87406	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.50627	D	0.000112	D	0.83348	0.5235	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86857	0.2027	10	0.62326	D	0.03	.	18.6671	0.91495	0.0:0.0:1.0:0.0	.	612	Q8WYK1	CNTP5_HUMAN	S	612	ENSP00000399013:G612S	ENSP00000399013:G612S	G	+	1	0	0	CNTNAP5	125083928	125083928	1.000000	0.71417	0.887000	0.34795	0.787000	0.44495	8.884000	0.92432	2.826000	0.97356	0.655000	0.94253	GGC	0.513473		TCGA-IB-8127-01A-11D-2396-08	0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	1		2	2	2	0		0	0	77		77	77	1	3.330000	-3.075755	1	0.350000				51	52		443	441	0		1			0	0	77	0		1.000000	0	0	0	0	0	0	51	443
LRP1B	53353	broad.mit.edu	37	2	141457900	141457900	+	Nonsense_Mutation	SNP	G	G	A	rs111904937	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:141457900G>A	ENST00000389484.3	-	41	7689	c.6718C>T	c.(6718-6720)Cga>Tga	p.R2240*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2240					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAAGATTCGGTTGGTACCT	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				606						c.(6718-6720)Cga>Tga		low density lipoprotein receptor-related protein 1B							123.0	127.0	125.0					2																	141457900		2203	4299	6502	SO:0001587	stop_gained	53353	0	0					g.chr2:141457900G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6718C>T	chr2.hg19:g.141457900G>A	ENSP00000374135:p.Arg2240*	1	TSP Lung(27;0.18)					p.R2240*	NM_018557.2	NP_061027.2	2	2	4	2.165928	Q9NZR2	LRP1B_HUMAN		41	7689	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	0	1	hg19	c.6718C>T	CCDS2182.1	1	.	.	.	.	.	.	.	.	.	.	G	53	20.963690	0.99936	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3686	0.60701	0.0:0.0:0.8416:0.1584	.	.	.	.	X	2240;2178	.	ENSP00000374135:R2240X	R	-	1	2	2	LRP1B	141174370	141174370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.608000	0.46308	2.176000	0.68965	0.585000	0.79938	CGA	0.513473		TCGA-IB-8127-01A-11D-2396-08	0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	85		85	85	1	3.330000	-5.063698	1	0.350000	NM_018557			173	170		539	533	1		1			0	0	85	0		1.000000	0	0	0	0	0	0	173	539
SCN1A	6323	broad.mit.edu	37	2	166911147	166911147	+	Splice_Site	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:166911147C>T	ENST00000303395.4	-	4	602		c.e4+1		SCN1A_ENST00000423058.2_Splice_Site|SCN1A_ENST00000409050.1_Splice_Site|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Splice_Site|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit						adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGCACTTACGCAAATGTAA	0.343																																						ENST00000303395.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				200	GRCh37	CS032427	SCN1A	S		c.e4+1		sodium channel, voltage-gated, type I, alpha subunit	Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)						61.0	63.0	63.0					2																	166911147		2203	4299	6502	SO:0001630	splice_region_variant	6323	0	0					g.chr2:166911147C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.602+1G>A	chr2.hg19:g.166911147C>T		1					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Splice_Site|SCN1A_ENST00000409050.1_Splice_Site|SCN1A_ENST00000423058.2_Splice_Site|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA				2	2	4	2.165928	P35498	SCN1A_HUMAN		4	602	-			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP	ENST00000303395.4	1	1	hg19		CCDS54413.1	1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844927	0.91197	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1745	0.93599	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SCN1A	166619393	166619393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.597000	0.87782	0.561000	0.74099	.	0.513473		TCGA-IB-8127-01A-11D-2396-08	0.343	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1		2	2	2	0		0	0	21		21	21	1	3.330000	-20.000000	1	0.350000	NM_006920	Intron		69	69		235	233	1		1			0	0	21	0		1.000000	0	0	0	0	0	0	69	235
ANTXR1	84168	broad.mit.edu	37	2	69409641	69409641	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:69409641A>G	ENST00000303714.4	+	16	1524	c.1202A>G	c.(1201-1203)aAg>aGg	p.K401R	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	401					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGAGAAAAGGGCTCCACA	0.418									Familial Infantile Hemangioma																													ENST00000303714.4	1.000000	2.000000e-02	1.500000e-01	5.000000e-02	0.090000	0.142828	0.090000	0.080000																										0				29						c.(1201-1203)aAg>aGg		anthrax toxin receptor 1							94.0	90.0	91.0					2																	69409641		2203	4300	6503	SO:0001583	missense	84168	0	0		Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	g.chr2:69409641A>G	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1202A>G	chr2.hg19:g.69409641A>G	ENSP00000301945:p.Lys401Arg	1					RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	p.K401R	NM_032208.2	NP_115584.1	2	2	4	2.154288	Q9H6X2	ANTR1_HUMAN		16	1524	+			A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	0	1	hg19	c.1202A>G	CCDS1892.1	0	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276887	0.40294	.	.	ENSG00000169604	ENST00000303714	D	0.82803	-1.65	5.32	5.32	0.75619	5.32	5.32	0.75619	Anthrax toxin receptor, C-terminal (2);	0.089199	0.85682	D	0.000000	T	0.73575	0.3604	L	0.28400	0.85	0.80722	D	1	B	0.25105	0.118	B	0.27796	0.083	T	0.71199	-0.4663	10	0.49607	T	0.09	-23.5511	9.1252	0.36810	0.9193:0.0:0.0807:0.0	.	401	Q9H6X2	ANTR1_HUMAN	R	401	ENSP00000301945:K401R	ENSP00000301945:K401R	K	+	2	0	0	ANTXR1	69263145	69263145	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.689000	0.61723	2.235000	0.73313	0.459000	0.35465	AAG	0.510910		TCGA-IB-8127-01A-11D-2396-08	0.418	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	0	0	1		20	20	2	1		1	1	74		74	74	1	3.330000	-2.656256	1	0.350000	NM_032208			5	5		444	439	0		0	0		1	0	74	0		0.001617	1.737930e-03	0	2	0	446	0	5	444
CLEC4F	165530	broad.mit.edu	37	2	71036948	71036948	+	Silent	SNP	G	G	A	rs561064679		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:71036948G>A	ENST00000272367.2	-	6	1657	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	CLEC4F_ENST00000426626.1_Silent_p.I527I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	527	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGTGAGACCGATCCAGTAGT	0.562																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1579-1581)atC>atT		C-type lectin domain family 4, member F							140.0	132.0	135.0					2																	71036948		2203	4300	6503	SO:0001819	synonymous_variant	165530	1	121412	32				g.chr2:71036948G>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1581C>T	chr2.hg19:g.71036948G>A		1					CLEC4F_ENST00000426626.1_Silent_p.I527I	p.I527I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	2	2	4	2.154288	Q8N1N0	CLC4F_HUMAN		6	1657	-			A4QPA5	Silent	SNP	ENST00000272367.2	1	1	hg19	c.1581C>T	CCDS1910.1	1																																																																																								0.510910		TCGA-IB-8127-01A-11D-2396-08	0.562	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	0	0	1		2	2	2	1		1	0	123		123	123	1	3.330000	-3.801580	1	0.350000	NM_173535			150	149		578	573	1		1	0		1	0	123	0		1.000000	4.416022e-01	0	0	0	7	0	150	578
DOCK10	55619	broad.mit.edu	37	2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:225659771C>T	ENST00000258390.7	-	45	5046	c.4979G>A	c.(4978-4980)cGt>cAt	p.R1660H	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1654H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478																																						ENST00000258390.7	1.000000	4.000000e-02	1.600000e-01	7.000000e-02	0.100000	0.141147	0.100000	0.120000																										2	Substitution - Missense(2)	p.R1658H(1)|p.R198H(1)	large_intestine(2)	87						c.(4978-4980)cGt>cAt		dedicator of cytokinesis 10							142.0	143.0	143.0					2																	225659771		2005	4185	6190	SO:0001583	missense	55619	0	0					g.chr2:225659771C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4979G>A	chr2.hg19:g.225659771C>T	ENSP00000258390:p.Arg1660His	1					DOCK10_ENST00000409592.3_Missense_Mutation_p.R1654H	p.R1660H	NM_014689.2	NP_055504.2	2	2	4	2.165928	Q96BY6	DOC10_HUMAN		45	5046	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	0	1	hg19	c.4979G>A	CCDS46528.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.577896	0.96565	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.65178	4.66;-0.14	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	M	0.91090	3.175	0.58432	D	0.999999	D;P;D;D	0.76494	0.972;0.95;0.984;0.999	B;B;P;D	0.64410	0.444;0.439;0.74;0.925	D	0.86564	0.1843	10	0.87932	D	0	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	1660;514;1654;322	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1654;1660;198	ENSP00000386694:R1654H;ENSP00000258390:R1660H	ENSP00000258390:R1660H	R	-	2	0	0	DOCK10	225368015	225368015	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	CGT	0.513473		TCGA-IB-8127-01A-11D-2396-08	0.478	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	0	0	1		2	2	2	0		0	0	107		107	107	1	3.330000	-2.600244	1	0.350000				10	10		713	706	0		1	0		0	0	107	0		0.996747	1.785854e-01	0	0	0	50	0	10	713
ANKRD28	23243	broad.mit.edu	37	3	15731728	15731728	+	Splice_Site	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:15731728C>T	ENST00000399451.2	-	18	2039		c.e18-1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATGATAGGCCTAGAAATAAA	0.318																																						ENST00000399451.2	1.000000	1.700000e-01	1	3.200000e-01	0.550000	0.608595	0.550000	1.000000																										0				6						c.e18-1		ankyrin repeat domain 28							52.0	45.0	47.0					3																	15731728		1831	4084	5915	SO:0001630	splice_region_variant	23243	0	0					g.chr3:15731728C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1672-1G>A	chr3.hg19:g.15731728C>T		1					ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	0	4	4	1.801629	O15084	ANR28_HUMAN		18	2039	-			B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	0	1	hg19		CCDS46769.1	0	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451013	0.84209	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.53	5.53	0.82687	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.472	0.94966	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	ANKRD28	15706732	15706732	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.480000	0.81109	2.585000	0.87301	0.655000	0.94253	.	0.408015		TCGA-IB-8127-01A-11D-2396-08	0.318	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	1	0	1		2	2	2	0		0	0	8		8	8	1	3.330000	-8.743280	1	0.350000	NM_015199	Intron		4	4		53	53	0		1			0	0	8	0		0.892791	0	0	0	0	0	0	4	53
SCN5A	6331	broad.mit.edu	37	3	38627422	38627422	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:38627422G>A	ENST00000333535.4	-	16	2696	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	SCN5A_ENST00000450102.2_Silent_p.I849I|SCN5A_ENST00000455624.2_Silent_p.I849I|SCN5A_ENST00000451551.2_Silent_p.I849I|SCN5A_ENST00000413689.1_Silent_p.I849I|SCN5A_ENST00000423572.2_Silent_p.I849I|SCN5A_ENST00000449557.2_Silent_p.I849I|SCN5A_ENST00000414099.2_Silent_p.I849I|SCN5A_ENST00000443581.1_Silent_p.I849I|SCN5A_ENST00000425664.1_Silent_p.I849I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	849					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGATGAACACGATGATGGCTA	0.567																																						ENST00000333535.4	1.000000	5.900000e-01	1	6.700000e-01	0.770000	0.805043	0.770000	0.740000																										0				107						c.(2545-2547)atC>atT		sodium channel, voltage-gated, type V, alpha subunit	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)						154.0	147.0	150.0					3																	38627422		2203	4300	6503	SO:0001819	synonymous_variant	6331	0	0					g.chr3:38627422G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2547C>T	chr3.hg19:g.38627422G>A		1					SCN5A_ENST00000450102.2_Silent_p.I849I|SCN5A_ENST00000451551.2_Silent_p.I849I|SCN5A_ENST00000413689.1_Silent_p.I849I|SCN5A_ENST00000423572.2_Silent_p.I849I|SCN5A_ENST00000455624.2_Silent_p.I849I|SCN5A_ENST00000443581.1_Silent_p.I849I|SCN5A_ENST00000425664.1_Silent_p.I849I|SCN5A_ENST00000449557.2_Silent_p.I849I|SCN5A_ENST00000414099.2_Silent_p.I849I	p.I849I			0	4	4	1.801629	Q14524	SCN5A_HUMAN		16	2696	-	Medulloblastoma(35;0.163)		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	1	1	hg19	c.2547C>T	CCDS46796.1	0																																																																																								0.408015		TCGA-IB-8127-01A-11D-2396-08	0.567	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1		2	2	2	0		0	0	83		83	83	1	3.330000	-19.999760	1	0.350000	NM_198056			63	62		463	460	1		1	0		0	0	83	0		1.000000	0	0	0	0	1	0	63	463
NAALADL2	254827	broad.mit.edu	37	3	174815006	174815006	+	Nonsense_Mutation	SNP	C	C	A	rs201598977		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:174815006C>A	ENST00000454872.1	+	2	598	c.470C>A	c.(469-471)tCa>tAa	p.S157*	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	157						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCTCCATCTTCAGGAACAGTT	0.358																																						ENST00000454872.1	0.160000	3.000000e-02	1.300000e-01	5.000000e-02	0.080000	0.093701	0.080000	0.090000																										0				49						c.(469-471)tCa>tAa		N-acetylated alpha-linked acidic dipeptidase-like 2							97.0	97.0	97.0					3																	174815006		1835	4090	5925	SO:0001587	stop_gained	254827	0	0					g.chr3:174815006C>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.470C>A	chr3.hg19:g.174815006C>A	ENSP00000404705:p.Ser157*	1					NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	p.S157*	NM_207015.2	NP_996898.2	1	2	3	1.903978	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	2	598	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Nonsense_Mutation	SNP	ENST00000454872.1	0	1	hg19	c.470C>A	CCDS46960.1	0	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573879	0.86542	.	.	ENSG00000177694	ENST00000454872	.	.	.	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.321256	0.22752	N	0.056073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.1618	16.3124	0.82883	0.1327:0.8672:0.0:0.0	.	.	.	.	X	157	.	.	S	+	2	0	0	NAALADL2	176297700	176297700	1.000000	0.71417	0.857000	0.33713	0.752000	0.42762	3.818000	0.55678	2.803000	0.96430	0.585000	0.79938	TCA	0.446809		TCGA-IB-8127-01A-11D-2396-08	0.358	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	0	0	1		2	2	2	0		0	0	92		92	92	1	3.330000	-2.506986	1	0.350000	NM_207015			8	7		634	630	0		1	0		0	0	92	0		0.989085	3.681114e-02	0	0	0	21	0	8	634
DHX15	1665	broad.mit.edu	37	4	24578266	24578266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:24578266C>T	ENST00000336812.4	-	2	263	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	36					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ATCTTTAGACCGATCTTCACG	0.418																																						ENST00000336812.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				30						c.(106-108)cGg>cAg		DEAH (Asp-Glu-Ala-His) box helicase 15							120.0	105.0	110.0					4																	24578266		2203	4300	6503	SO:0001583	missense	1665	0	0					g.chr4:24578266C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.107G>A	chr4.hg19:g.24578266C>T	ENSP00000336741:p.Arg36Gln	1						p.R36Q	NM_001358.2	NP_001349.2	1	2	3	1.936336	O43143	DHX15_HUMAN		2	263	-		Breast(46;0.0503)	Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	1	1	hg19	c.107G>A	CCDS33966.1	1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842965	0.71488	.	.	ENSG00000109606	ENST00000336812	T	0.60920	0.15	5.59	4.74	0.60224	5.59	4.74	0.60224	.	0.070853	0.56097	D	0.000027	T	0.29652	0.0740	N	0.08118	0	0.80722	D	1	P	0.43352	0.804	B	0.30316	0.114	T	0.24012	-1.0172	10	0.13853	T	0.58	-7.751	14.6282	0.68638	0.0:0.9285:0.0:0.0715	.	36	O43143	DHX15_HUMAN	Q	36	ENSP00000336741:R36Q	ENSP00000336741:R36Q	R	-	2	0	0	DHX15	24187364	24187364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.772000	0.68889	2.648000	0.89879	0.650000	0.86243	CGG	0.446809		TCGA-IB-8127-01A-11D-2396-08	0.418	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	1	0	1		2	2	2	0		0	0	47		47	46	1	3.330000	-13.396250	1	0.350000	NM_001358			93	93		151	149	1		1	1		0	0	47	0		1.000000	1	0	155	0	185	0	93	151
KCTD8	386617	broad.mit.edu	37	4	44176848	44176848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:44176848G>A	ENST00000360029.3	-	2	1664	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	461					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.R461C(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGCCATTGGCGTTTGCGCTCT	0.363										HNSCC(17;0.042)																												ENST00000360029.3	1.000000	7.400000e-01	1	8.200000e-01	0.910000	0.913954	0.910000	1.000000																										1	Substitution - Missense(1)	p.R461C(1)	large_intestine(1)	41						c.(1381-1383)Cgc>Tgc		potassium channel tetramerization domain containing 8							111.0	116.0	114.0					4																	44176848		2203	4300	6503	SO:0001583	missense	386617	11	121410	43				g.chr4:44176848G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1381C>T	chr4.hg19:g.44176848G>A	ENSP00000353129:p.Arg461Cys	1	HNSCC(17;0.042)					p.R461C	NM_198353.2	NP_938167.1	1	2	3	1.972835	Q6ZWB6	KCTD8_HUMAN		2	1664	-			A2RU39	Missense_Mutation	SNP	ENST00000360029.3	1	1	hg19	c.1381C>T	CCDS3467.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948563	0.53186	.	.	ENSG00000183783	ENST00000360029	T	0.44083	0.93	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.52532	D	0.000075	T	0.50154	0.1599	N	0.24115	0.695	0.46798	D	0.999203	D	0.89917	1.0	D	0.64595	0.927	T	0.54636	-0.8264	10	0.72032	D	0.01	.	17.6253	0.88092	0.0:0.0:1.0:0.0	.	461	Q6ZWB6	KCTD8_HUMAN	C	461	ENSP00000353129:R461C	ENSP00000353129:R461C	R	-	1	0	0	KCTD8	43871605	43871605	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.936000	0.56568	2.699000	0.92147	0.650000	0.86243	CGC	0.446809		TCGA-IB-8127-01A-11D-2396-08	0.363	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1	1	0	1		2	2	2	0		0	0	120		120	120	1	3.330000	-20.000000	1	0.350000				89	89		561	557	1		1	0		0	0	120	0		1.000000	5.229704e-02	0	0	0	3	0	89	561
MMRN1	22915	broad.mit.edu	37	4	90872776	90872776	+	Silent	SNP	C	C	A	rs368250909	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:90872776C>A	ENST00000394980.1	+	8	3458	c.3139C>A	c.(3139-3141)Cgg>Agg	p.R1047R	MMRN1_ENST00000394981.1_Silent_p.R350R|MMRN1_ENST00000508372.1_Silent_p.R789R|MMRN1_ENST00000264790.2_Silent_p.R1047R			Q13201	MMRN1_HUMAN	multimerin 1	1047	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGCTGTAGTCGGCATCCGTG	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		18195	0.0		0.0	False		,,,				2504	0.002					ENST00000394980.1	1.000000	8.000000e-02	3.400000e-01	1.400000e-01	0.200000	0.303103	0.200000	0.190000																										0				72						c.(3139-3141)Cgg>Agg		multimerin 1		C		1,4405	2.1+/-5.4	0,1,2202	85.0	74.0	78.0		3139	0.9	0.0	4		78	0,8600		0,0,4300	no	coding-synonymous	MMRN1	NM_007351.2		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		1047/1229	90872776	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22915	12	121382	38				g.chr4:90872776C>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3139C>A	chr4.hg19:g.90872776C>A		1					MMRN1_ENST00000394981.1_Silent_p.R350R|MMRN1_ENST00000264790.2_Silent_p.R1047R|MMRN1_ENST00000508372.1_Silent_p.R789R	p.R1047R			1	3	4	2.072452	Q13201	MMRN1_HUMAN		8	3458	+		Hepatocellular(203;0.114)	Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	0	1	hg19	c.3139C>A	CCDS3635.1	0																																																																																								0.499037		TCGA-IB-8127-01A-11D-2396-08	0.433	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	0	0	1		2	2	2	0		0	0	37		37	37	1	3.330000	-3.730222	1	0.350000	NM_007351			8	8		308	305	0		1	0		0	0	37	0		0.989190	1.407274e-01	0	0	0	23	0	8	308
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140712339G>A	ENST00000517417.1	+	1	2088	c.2088G>A	c.(2086-2088)gcG>gcA	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672																																						ENST00000517417.1	1.000000	8.600000e-01	1	9.300000e-01	0.990000	0.977311	0.990000	1.000000																										4	Substitution - coding silent(4)	p.A696A(4)	lung(4)	78						c.(2086-2088)gcG>gcA		protocadherin gamma subfamily A, 1							74.0	85.0	81.0					5																	140712339		2203	4297	6500	SO:0001819	synonymous_variant	56114	2	121398	37				g.chr5:140712339G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2088G>A	chr5.hg19:g.140712339G>A		1					PCDHGA1_ENST00000378105.3_Silent_p.A696A	p.A696A	NM_018912.2	NP_061735.1	2	2	4	2.234259	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2088	+			Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	1	1	hg19	c.2088G>A	CCDS54922.1	1																																																																																								0.518519		TCGA-IB-8127-01A-11D-2396-08	0.672	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	1	0	1		2	2	2	0		0	0	137		137	140	1	3.330000	-2.879461	1	0.350000	NM_018912			151	142		997	959	1		1	1		0	0	137	0		1.000000	5.260277e-01	0	5	0	8	0	151	997
PCDHGA9	56107	broad.mit.edu	37	5	140783647	140783647	+	Silent	SNP	C	C	T	rs369802030		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140783647C>T	ENST00000573521.1	+	1	1128	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGACTCCGGGAAGAATG	0.408																																						ENST00000573521.1	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				5						c.(1126-1128)tcC>tcT		protocadherin gamma subfamily A, 9		T	,,,,,,,,,,,,,,	0,3880		0,0,1940	41.0	42.0	41.0		,,,,,,,,1128,,,,,,1128	-10.3	0.6	5		41	1,8289		0,1,4144	no	intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_032088.1,NM_032089.1	,,,,,,,,,,,,,,	0,1,6084	TT,TC,CC		0.0121,0.0,0.0082	,,,,,,,,,,,,,,	,,,,,,,,376/933,,,,,,376/829	140783647	1,12169	1940	4145	6085	SO:0001819	synonymous_variant	56107	1	120866	28				g.chr5:140783647C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1128C>T	chr5.hg19:g.140783647C>T		1					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.S376S	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	2	2	4	2.234259	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1128	+			A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	1	1	hg19	c.1128C>T	CCDS58981.1	1																																																																																								0.518519		TCGA-IB-8127-01A-11D-2396-08	0.408	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	1	0	1		2	2	2	0		0	0	52		52	52	1	3.330000	-9.703541	1	0.350000	NM_018921			103	101		219	218	1		1	0		0	0	52	0		1.000000	7.085715e-01	0	1	0	6	0	103	219
TNIP1	10318	broad.mit.edu	37	5	150422486	150422486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:150422486G>A	ENST00000389378.2	-	10	1561	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W	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	325	Interacts with Nef.				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)			TTCATGGACCGGAAATGCTGG	0.552																																						ENST00000389378.2	0.080000	0	6.000000e-02	1.000000e-02	0.030000	0.041968	0.030000	0.040000																										0				23						c.(973-975)Cgg>Tgg		TNFAIP3 interacting protein 1							283.0	249.0	260.0					5																	150422486		2203	4300	6503	SO:0001583	missense	10318	3	121412	37				g.chr5:150422486G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.973C>T	chr5.hg19:g.150422486G>A	ENSP00000374029:p.Arg325Trp	1					TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W	p.R325W	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	2	2	4	2.234259	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	10	1561	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	0	1	hg19	c.973C>T	CCDS34280.1	0	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337020	0.81801	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	T;T;T;T;T;T;T;T;T	0.61859	2.23;2.26;2.26;2.26;2.26;2.26;2.26;0.07;2.3	5.47	5.47	0.80525	5.47	5.47	0.80525	.	0.106709	0.64402	D	0.000004	T	0.77572	0.4150	M	0.83223	2.63	0.44780	D	0.997788	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;0.998;0.999	T	0.80797	-0.1222	10	0.87932	D	0	-33.1055	14.6438	0.68745	0.0:0.0:0.8538:0.1461	.	325;279;279;325;325;325;325	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	W	272;325;325;325;282;282;287;325;325;325;325;325;282	ENSP00000429891:R272W;ENSP00000374029:R325W;ENSP00000317891:R325W;ENSP00000428243:R325W;ENSP00000428187:R325W;ENSP00000430760:R325W;ENSP00000430971:R325W;ENSP00000429912:R325W;ENSP00000431105:R325W	ENSP00000317891:R325W	R	-	1	2	2	TNIP1	150402679	150402679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.685000	0.54678	2.561000	0.86390	0.650000	0.86243	CGG	0.518519		TCGA-IB-8127-01A-11D-2396-08	0.552	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	0	0	1		2	2	2	0		0	0	303		303	300	1	3.330000	-1.820619	0	0.350000	NM_006058			9	9		1761	1749	0		1	1		0	0	303	0		0.994002	7.962232e-01	0	2	0	578	0	9	1761
GABRB2	2561	broad.mit.edu	37	5	160721244	160721244	+	Silent	SNP	C	C	T	rs536960677	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:160721244C>T	ENST00000393959.1	-	10	1382	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	GABRB2_ENST00000274547.2_Silent_p.A461A|GABRB2_ENST00000520240.1_Silent_p.A423A|GABRB2_ENST00000353437.6_Silent_p.A423A|GABRB2_ENST00000517547.1_Silent_p.A263A|GABRB2_ENST00000517901.1_Silent_p.A360A			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	461					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTCTTTTGCGCCACATGTC	0.517													C|||	3	0.000599042	0.0	0.0	5008	,	,		19587	0.0		0.0	False		,,,				2504	0.0031					ENST00000393959.1	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				26						c.(1381-1383)gcG>gcA		gamma-aminobutyric acid (GABA) A receptor, beta 2	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)						108.0	98.0	101.0					5																	160721244		2203	4300	6503	SO:0001819	synonymous_variant	2561	20	121412	44				g.chr5:160721244C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1383G>A	chr5.hg19:g.160721244C>T		1					GABRB2_ENST00000517901.1_Silent_p.A360A|GABRB2_ENST00000517547.1_Silent_p.A263A|GABRB2_ENST00000353437.6_Silent_p.A423A|GABRB2_ENST00000274547.2_Silent_p.A461A|GABRB2_ENST00000520240.1_Silent_p.A423A	p.A461A			2	2	4	2.234259	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	10	1382	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	1	1	hg19	c.1383G>A	CCDS4355.1	1																																																																																								0.518519		TCGA-IB-8127-01A-11D-2396-08	0.517	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1	1	0	1		2	2	2	0		0	0	79		79	79	1	3.330000	-20.000000	1	0.350000				115	114		301	296	1		1			0	0	79	0		1.000000	0	0	0	0	0	0	115	301
IRF4	3662	broad.mit.edu	37	6	401644	401644	+	Silent	SNP	C	C	T	rs113364548	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr6:401644C>T	ENST00000380956.4	+	7	1092	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	322					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TGGCCCCCGACGGGCTCTATG	0.607			T	IGH@	MM								C|||	2	0.000399361	0.0	0.0	5008	,	,		19151	0.0		0.002	False		,,,				2504	0.0					ENST00000380956.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		6	6p25-p23	6p25-p23	3662	T	interferon regulatory factor 4				L	L	IGH@		MM		0				5						c.(964-966)gaC>gaT		interferon regulatory factor 4							46.0	47.0	47.0					6																	401644		2203	4300	6503	SO:0001819	synonymous_variant	3662	6	121412	40				g.chr6:401644C>T	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.966C>T	chr6.hg19:g.401644C>T		1						p.D322D	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	0	2	2	1.684488	Q15306	IRF4_HUMAN		7	1092	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	1	1	hg19	c.966C>T	CCDS4469.1	1																																																																																								0.350000		TCGA-IB-8127-01A-11D-2396-08	0.607	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1	1	0	1		2	2	2	0		0	0	47		47	44	1	3.330000	-20.000000	1	0.350000				93	89		175	172	1		1	0		0	0	47	0		1.000000	9.763307e-01	0	0	0	14	0	93	175
CALN1	83698	broad.mit.edu	37	7	71252799	71252799	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:71252799C>T	ENST00000329008.5	-	6	919	c.621G>A	c.(619-621)ctG>ctA	p.L207L	CALN1_ENST00000431984.1_Silent_p.L207L|CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000395276.2_Silent_p.L207L|CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000395275.2_Silent_p.L249L	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.L249L(1)|p.L207L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGCTGCAATCAGCATGACAC	0.592																																						ENST00000329008.5	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - coding silent(2)	p.L249L(1)|p.L207L(1)	lung(2)	32						c.(619-621)ctG>ctA		calneuron 1							118.0	92.0	101.0					7																	71252799		2203	4300	6503	SO:0001819	synonymous_variant	83698	0	0					g.chr7:71252799C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.621G>A	chr7.hg19:g.71252799C>T		1					CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000431984.1_Silent_p.L207L|CALN1_ENST00000395275.2_Silent_p.L249L|CALN1_ENST00000395276.2_Silent_p.L207L	p.L207L	NM_001017440.2	NP_001017440.1	2	2	4	2.189630	Q9BXU9	CABP8_HUMAN		6	919	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	J3KQA7	Silent	SNP	ENST00000329008.5	1	1	hg19	c.621G>A	CCDS5541.1	1																																																																																								0.518519		TCGA-IB-8127-01A-11D-2396-08	0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	1	0	1		2	2	2	0		0	0	53		53	53	1	3.330000	-20.000000	1	0.350000	NM_031468			90	89		242	239	1		1			0	0	53	0		1.000000	0	0	0	0	0	0	90	242
PPP1R3A	5506	broad.mit.edu	37	7	113518727	113518727	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:113518727A>C	ENST00000284601.3	-	4	2488	c.2420T>G	c.(2419-2421)tTa>tGa	p.L807*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	807					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACAAATACCTAAACGTGATTC	0.383																																						ENST00000284601.3	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				121						c.(2419-2421)tTa>tGa		protein phosphatase 1, regulatory subunit 3A							119.0	102.0	108.0					7																	113518727		2203	4300	6503	SO:0001587	stop_gained	5506	0	0					g.chr7:113518727A>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2420T>G	chr7.hg19:g.113518727A>C	ENSP00000284601:p.Leu807*	1						p.L807*	NM_002711.3	NP_002702.2	2	2	4	2.189630	Q16821	PPR3A_HUMAN		4	2488	-			A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	0	1	hg19	c.2420T>G	CCDS5759.1	1	.	.	.	.	.	.	.	.	.	.	A	34	5.312369	0.95655	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.92	2.29	0.28610	5.92	2.29	0.28610	.	0.536654	0.17154	N	0.184937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2057	9.3856	0.38340	0.7344:0.0:0.2656:0.0	.	.	.	.	X	807	.	ENSP00000284601:L807X	L	-	2	0	0	PPP1R3A	113305963	113305963	1.000000	0.71417	0.285000	0.24819	0.850000	0.48378	1.634000	0.37123	0.154000	0.19237	-0.297000	0.09499	TTA	0.518519		TCGA-IB-8127-01A-11D-2396-08	0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	1	0	1		2	2	2	0		0	0	95		95	95	1	3.330000	-20.000000	1	0.350000	NM_002711			136	133		389	386	1		1			0	0	95	0		1.000000	0	0	0	0	0	0	136	389
ENDOG	2021	broad.mit.edu	37	9	131584646	131584646	+	Silent	SNP	C	C	A	rs141194619		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:131584646C>A	ENST00000372642.4	+	3	862	c.651C>A	c.(649-651)gtC>gtA	p.V217V	C9orf114_ENST00000361256.5_3'UTR	NM_004435.2	NP_004426.2	Q14249	NUCG_HUMAN	endonuclease G	217					apoptotic DNA fragmentation (GO:0006309)|DNA recombination (GO:0006310)|in utero embryonic development (GO:0001701)|positive regulation of apoptotic process (GO:0043065)|response to antibiotic (GO:0046677)|response to tumor necrosis factor (GO:0034612)	mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|nucleic acid binding (GO:0003676)										AGTACCAGGTCATCGGCAAGA	0.587																																						ENST00000372642.4	1.000000	5.300000e-01	1	6.800000e-01	0.860000	0.847254	0.860000	1.000000																										0										c.(649-651)gtC>gtA		endonuclease G							87.0	77.0	80.0					9																	131584646		2203	4300	6503	SO:0001819	synonymous_variant	2021	0	0					g.chr9:131584646C>A	X79444	CCDS6912.1	9q34.1	2008-06-04			ENSG00000167136	ENSG00000167136			3346	protein-coding gene	gene with protein product		600440				7789991	Standard	NM_004435		Approved		uc004bwc.3	Q14249	OTTHUMG00000020763	ENST00000372642.4:c.651C>A	chr9.hg19:g.131584646C>A		1					C9orf114_ENST00000361256.5_3'UTR	p.V217V	NM_004435.2	NP_004426.2	2	2	4	2.120770	Q14249	NUCG_HUMAN		3	862	+			Q5T281|Q9BSP2	Silent	SNP	ENST00000372642.4	0	1	hg19	c.651C>A	CCDS6912.1	1																																																																																								0.504384		TCGA-IB-8127-01A-11D-2396-08	0.587	ENDOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054505.1	1	0	1		2	2	2	0		0	0	24		24	24	1	3.330000	-20.000000	1	0.350000	NM_004435			19	19		153	153	0		1	1		0	0	24	0		0.999993	9.999978e-01	0	28	0	164	0	19	153
USP20	10868	broad.mit.edu	37	9	132640646	132640646	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:132640646G>A	ENST00000315480.4	+	23	2597	c.2439G>A	c.(2437-2439)tcG>tcA	p.S813S	USP20_ENST00000372429.3_Silent_p.S813S|USP20_ENST00000358355.1_Silent_p.S813S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	813	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCGAGGAGTCGCCGGGCGTCA	0.607																																						ENST00000315480.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999901	0.990000	1.000000																										0				11						c.(2437-2439)tcG>tcA		ubiquitin specific peptidase 20							29.0	32.0	31.0					9																	132640646		2004	4161	6165	SO:0001819	synonymous_variant	10868	3	120628	27				g.chr9:132640646G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2439G>A	chr9.hg19:g.132640646G>A		1					USP20_ENST00000372429.3_Silent_p.S813S|USP20_ENST00000358355.1_Silent_p.S813S	p.S813S			2	2	4	2.120770	Q9Y2K6	UBP20_HUMAN		23	2597	+		Ovarian(14;0.00556)	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	1	1	hg19	c.2439G>A	CCDS43892.1	1																																																																																								0.504384		TCGA-IB-8127-01A-11D-2396-08	0.607	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2	1	0	1		2	2	2	0		0	0	15		15	15	1	3.330000	-20.000000	1	0.350000				22	22		67	66	1		1	1		0	0	15	0		1.000000	9.999996e-01	0	19	0	70	0	22	67
C9orf172	389813	broad.mit.edu	37	9	139739952	139739952	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:139739952C>T	ENST00000436881.1	+	1	1086	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	362	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GCTATGTCCCCGAGGAGCCCC	0.697																																						ENST00000436881.1	1.000000	9.400000e-01	1	9.900000e-01	0.990000	0.996087	0.990000	1.000000																										0				9						c.(1084-1086)ccC>ccT		chromosome 9 open reading frame 172							5.0	6.0	6.0					9																	139739952		1728	3874	5602	SO:0001819	synonymous_variant	389813	0	0					g.chr9:139739952C>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.1086C>T	chr9.hg19:g.139739952C>T		1						p.P362P	NM_001080482.2	NP_001073951.2	2	2	4	2.120770	C9J069	CI172_HUMAN		1	1086	+				Silent	SNP	ENST00000436881.1	0	1	hg19	c.1086C>T	CCDS48059.1	1																																																																																								0.504384		TCGA-IB-8127-01A-11D-2396-08	0.697	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	10		10	10	1	3.330000	-20.000000	1	0.350000	NM_001080482			15	14		59	56	0		1	1		0	0	10	0		0.999893	5.826610e-01	0	2	0	7	0	15	59
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:372257C>T	ENST00000453981.1	+	18	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448																																						ENST00000453981.1	0.150000	2.000000e-02	1.100000e-01	4.000000e-02	0.070000	0.079925	0.070000	0.070000																										0				65						c.(2080-2082)Cca>Tca		dedicator of cytokinesis 8							123.0	111.0	115.0					9																	372257		2203	4300	6503	SO:0001583	missense	81704	0	0					g.chr9:372257C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2080C>T	chr9.hg19:g.372257C>T	ENSP00000408464:p.Pro694Ser	1					DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S	p.P694S			0	2	2	1.636910	Q8NF50	DOCK8_HUMAN		18	2192	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	0	1	hg19	c.2080C>T	CCDS6440.2	0	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	0	DOCK8	362257	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA	0.350000		TCGA-IB-8127-01A-11D-2396-08	0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	0	0	1		2	2	2	0		0	0	76		76	76	1	3.330000	-2.041525	0	0.350000	XM_036307			5	5		420	412	0		1	0		0	0	76	0		0.934722	1.055717e-01	0	0	0	38	0	5	420
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																								1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	4199	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(262-264)Gag>Tag		cyclin-dependent kinase inhibitor 2A							13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001587	stop_gained	1029	0	0					g.chr9:21971096C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.262G>T	chr9.hg19:g.21971096C>A	ENSP00000307101:p.Glu88*	1	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*	p.E88*	NM_000077.4	NP_000068.1	0	2	2	1.636910	P42771	CD2A1_HUMAN		2	532	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	0	1	hg19	c.262G>T	CCDS6510.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.530771|7.530771	0.98342|0.98342	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|D;D	.|0.87412	.|-2.25;-2.14	5.93|5.93	5.93|5.93	0.95920|0.95920	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.215520	.|0.23483	.|N	.|0.047681	.|D	.|0.89287	.|0.6672	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.63880	.|0.993	.|P	.|0.58660	.|0.843	.|D	.|0.89966	.|0.4090	.|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|143	.|Q8N726	.|CD2A2_HUMAN	X|V	88|143;102	.|ENSP00000355153:G143V;ENSP00000432664:G102V	ENSP00000307101:E88X|ENSP00000355153:G143V	E|G	-|-	1|2	0|0	0|0	CDKN2A|CDKN2A	21961096|21961096	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA	0.350000		TCGA-IB-8127-01A-11D-2396-08	0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	1		2	2	2	0		0	0	20		20	17	1	3.330000	-20.000000	1	0.350000	NM_000077			49	45		100	89	0		1	1	1	0	0	20	179		1.000000	1	1	165	64	9	99	49	100
LINGO2	158038	broad.mit.edu	37	9	27949236	27949236	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:27949236G>A	ENST00000379992.2	-	6	1883	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	LINGO2_ENST00000308675.3_Silent_p.S478S	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	478	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATACATCCCGCTGTCTTGAT	0.502																																						ENST00000379992.2	0.180000	2.000000e-02	1.300000e-01	5.000000e-02	0.080000	0.097146	0.080000	0.080000																										0				44						c.(1432-1434)agC>agT		leucine rich repeat and Ig domain containing 2							90.0	84.0	86.0					9																	27949236		2203	4300	6503	SO:0001819	synonymous_variant	158038	6	121408	38				g.chr9:27949236G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1434C>T	chr9.hg19:g.27949236G>A		1					LINGO2_ENST00000308675.3_Silent_p.S478S	p.S478S	NM_152570.2	NP_689783.1	0	2	2	1.636910	Q7L985	LIGO2_HUMAN		6	1883	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	0	1	hg19	c.1434C>T	CCDS6524.1	0																																																																																								0.350000		TCGA-IB-8127-01A-11D-2396-08	0.502	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	0	0	1		2	2	2	0		0	0	78		78	78	1	3.330000	-4.239472	1	0.350000	NM_152570			5	5		344	338	0		1			0	0	78	0		0.935098	0	0	0	0	0	0	5	344
WNK2	65268	broad.mit.edu	37	9	96080243	96080243	+	Silent	SNP	G	G	A	rs369158903		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:96080243G>A	ENST00000297954.4	+	30	6828	c.6828G>A	c.(6826-6828)ccG>ccA	p.P2276P	WNK2_ENST00000427277.2_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2276					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCACTCAGCCGCGAGGGGGAC	0.672																																						ENST00000297954.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				54						c.(6826-6828)ccG>ccA		WNK lysine deficient protein kinase 2		G		0,1752		0,0,876	41.0	41.0	41.0			-7.6	0.0	9		41	1,3981		0,1,1990	no	intron	WNK2	NM_006648.3		0,1,2866	AA,AG,GG		0.0251,0.0,0.0174			96080243	1,5733	876	1991	2867	SO:0001819	synonymous_variant	65268	12	116238	41				g.chr9:96080243G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6828G>A	chr9.hg19:g.96080243G>A		1					WNK2_ENST00000427277.2_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron	p.P2276P	NM_001282394.1	NP_001269323.1	2	2	4	2.120118	Q9Y3S1	WNK2_HUMAN		30	6828	+			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	1	1	hg19	c.6828G>A		1																																																																																								0.503058		TCGA-IB-8127-01A-11D-2396-08	0.672	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	0	0	1		2	2	2	0		0	0	42		42	42	1	3.330000	-20.000000	1	0.350000	NM_006648			68	67		181	180	0		1	1		0	0	42	0		1.000000	8.436209e-01	0	3	0	8	0	68	181
CACNA1B	774	broad.mit.edu	37	9	140880965	140880965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:140880965G>A	ENST00000371372.1	+	14	2015	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	CACNA1B_ENST00000371363.1_Missense_Mutation_p.A624T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A624T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A625T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A625T|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	624					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTGGTCTTCGCCCTGCTGGG	0.597																																						ENST00000371372.1	1.000000	5.300000e-01	1	6.700000e-01	0.830000	0.833704	0.830000	1.000000																										0				80						c.(1870-1872)Gcc>Acc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)						56.0	59.0	58.0					9																	140880965		2088	4237	6325	SO:0001583	missense	774	0	0					g.chr9:140880965G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1870G>A	chr9.hg19:g.140880965G>A	ENSP00000360423:p.Ala624Thr	1					CACNA1B_ENST00000277551.2_Missense_Mutation_p.A624T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A625T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A624T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A625T	p.A624T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	2	2	4	2.120770	Q00975	CAC1B_HUMAN		14	2015	+	all_cancers(76;0.166)		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	0	1	hg19	c.1870G>A	CCDS59522.1	0	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082671	0.76528	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91	4.35	4.35	0.52113	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99719	1.1009	10	0.87932	D	0	.	17.2437	0.87021	0.0:0.0:1.0:0.0	.	624;624	B1AQK4;B1AQK6	.;.	T	624;624;624;625;625	ENSP00000360423:A624T;ENSP00000277551:A624T;ENSP00000360414:A624T;ENSP00000360408:A625T;ENSP00000360406:A625T	ENSP00000277551:A624T	A	+	1	0	0	CACNA1B	140000786	140000786	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	9.499000	0.97975	2.107000	0.64212	0.462000	0.41574	GCC	0.504384		TCGA-IB-8127-01A-11D-2396-08	0.597	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1		2	2	2	0		0	0	23		23	23	1	3.330000	-9.997785	1	0.350000	NM_000718			22	22		182	181	1		1			0	0	23	0		0.999999	0	0	0	0	0	0	22	182
SERPINA7	6906	broad.mit.edu	37	X	105277592	105277592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chrX:105277592G>A	ENST00000327674.4	-	4	1482	c.1147C>T	c.(1147-1149)Cct>Tct	p.P383S	SERPINA7_ENST00000372563.1_Missense_Mutation_p.P383S|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	383			P -> L (in TBG deficiency; Kumamoto). {ECO:0000269|PubMed:1294376}.		aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGGATAATAGGGTGTAGGAAA	0.438																																						ENST00000327674.4	1.000000	9.800000e-01	1	9.800000e-01	0.990000	0.998096	0.990000	1.000000																										0				24						c.(1147-1149)Cct>Tct		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)						225.0	224.0	224.0					X																	105277592		2203	4300	6503	SO:0001583	missense	6906	0	0					g.chrX:105277592G>A	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.1147C>T	chrX.hg19:g.105277592G>A	ENSP00000329374:p.Pro383Ser						SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.P383S	p.P383S			0	1	1		P05543	THBG_HUMAN		4	1482	-			D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	1	1	hg19	c.1147C>T	CCDS14518.1	1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246856	0.22796	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84370	-1.84;-1.84	4.9	-3.02	0.05446	4.9	-3.02	0.05446	Serpin domain (3);	0.262727	0.32444	N	0.006089	T	0.75686	0.3883	L	0.48174	1.505	0.09310	N	1	P	0.41188	0.741	B	0.41619	0.361	T	0.68168	-0.5480	10	0.42905	T	0.14	.	5.562	0.17150	0.3419:0.3906:0.2675:0.0	.	383	P05543	THBG_HUMAN	S	383	ENSP00000329374:P383S;ENSP00000361644:P383S	ENSP00000329374:P383S	P	-	1	0	0	SERPINA7	105164248	105164248	0.910000	0.30920	0.000000	0.03702	0.039000	0.13416	3.651000	0.54431	-0.590000	0.05866	0.594000	0.82650	CCT	0.350000		TCGA-IB-8127-01A-11D-2396-08	0.438	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	1	0	1		2	2	2	0		0	0	187		187	185	1	3.330000	-20.000000	1	0.350000	NM_000354			586	579		596	592	1		1			0	0	187	0		1.000000	0	0	0	0	0	0	586	596
