#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_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_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	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_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_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_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
CASQ2	845	broad.mit.edu	37	1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-	rs7413162|rs368007942|rs397516641	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404														7	0.00139776	0.0	0.0029	5008	,	,		24503	0.0		0.005	False		,,,				2504	0.0					ENST00000261448.5		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18						c.(1183-1188)gacgat>gat		calsequestrin 2 (cardiac muscle)																																				SO:0001651	inframe_deletion	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116243875_116243877delTCG	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1185_1187delCGA	1.37:g.116243875_116243877delTCG	ENSP00000261448:p.Asp398del	True	False		Somatic	1				CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	p.395_396DD>D	NM_001232.3	NP_001223.2	WXS	Illumina HiSeq	Phase_I	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	11	1424_1426	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	395			Asp/Glu-rich (acidic).		B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	In_Frame_Del	DEL	ENST00000261448.5	37	c.1185_1187delCGA	CCDS884.1																																																																																				0.404	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	0	NM_001232		1:116243875
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858|rs537893827	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:116729011_116729013delTGT	ENST00000292055.4	-	20	2885_2887	c.2850_2852delACA	c.(2848-2853)caacag>cag	p.950_951QQ>Q	SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000446921.2_In_Frame_Del_p.948_949QQ>Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596														5	0.000998403	0.003	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.001					ENST00000446921.2		NA																	0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2842-2847)caacag>cag		SIK family kinase 3																																				SO:0001651	inframe_deletion	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729011_116729013delTGT	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2850_2852delACA	11.37:g.116729011_116729013delTGT	ENSP00000292055:p.Gln955del	True	False		Somatic	1				SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000488337.1_5'UTR	p.948_949QQ>Q			WXS	Illumina HiSeq	Phase_I	Q9Y2K2	SIK3_HUMAN			20	2865_2867	-			950			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	In_Frame_Del	DEL	ENST00000292055.4	37	c.2844_2846delACA	CCDS8379.1																																																																																				0.596	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_025164		11:116729011
SLC27A3	11000	broad.mit.edu	37	1	153747985	153747996	+	In_Frame_Del	DEL	CCTGCTGCTGCC	CCTGCTGCTGCC	-	rs143599353|rs149310539		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	CCTGCTGCTGCC	CCTGCTGCTGCC	-	-	CCTGCTGCTGCC	CCTGCTGCTGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr1:153747985_153747996delCCTGCTGCTGCC	ENST00000368661.3	+	1	218_229	c.153_164delCCTGCTGCTGCC	c.(151-165)ctcctgctgctgccc>ctc	p.LLLP52del	SLC27A3_ENST00000271857.2_In_Frame_Del_p.LLLP133del|SLC27A3_ENST00000484014.1_Intron	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	52					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGCTGCCCTCctgctgctgcccctgctgctg	0.642																																						ENST00000271857.2		NA																	0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(394-408)ctcctgctgctgccc>ctc		solute carrier family 27 (fatty acid transporter), member 3				3,4263		1,1,2131						3.3	1.0		dbSNP_134	52	15,8239		6,3,4118	no	coding	SLC27A3	NM_024330.1		7,4,6249	A1A1,A1R,RR		0.1817,0.0703,0.1438				18,12502				SO:0001651	inframe_deletion	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153747985_153747996delCCTGCTGCTGCC	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.153_164delCCTGCTGCTGCC	1.37:g.153747985_153747996delCCTGCTGCTGCC	ENSP00000357650:p.Leu52_Pro55del	True	False		Somatic	1				SLC27A3_ENST00000484014.1_Intron|SLC27A3_ENST00000368661.3_In_Frame_Del_p.LLLP52del	p.LLLP133del			WXS	Illumina HiSeq	Phase_I	Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1156_1167	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		52					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	In_Frame_Del	DEL	ENST00000368661.3	37	c.396_407delCCTGCTGCTGCC	CCDS1053.1																																																																																				0.642	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_024330		1:153747985
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs374776064|rs587611810|rs71199613	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688														1042	0.208067	0.1188	0.2522	5008	,	,		15055	0.1379		0.3231	False		,,,				2504	0.2515					ENST00000400368.1		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(145-147)ccg>ccCAGCTGCTGCGCCCCg		keratin associated protein 10-6																																				SO:0001652	inframe_insertion	386674					keratin filament		g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.146_147insCAGCTGCTGCGCCCC	21.37:g.46012219_46012220insGGGGCGCAGCAGCTG	Exception_encountered	True	False		Somatic	0				TSPEAR_ENST00000323084.4_Intron	p.49_49P>PSCCAP	NM_198688.2	NP_941961.2	WXS	Illumina HiSeq	Phase_I	P60371	KR106_HUMAN			1	166_167	-			49			29 X 5 AA repeats of C-C-X(3).			In_Frame_Ins	INS	ENST00000400368.1	37	c.146_147insCAGCTGCTGCGCCCC	CCDS42959.1																																																																																				0.688	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	0	NM_198688		21:46012219
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(61-66)gcggca>gca		insulin receptor substrate 4																																				SO:0001651	inframe_deletion	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979510_107979512delGCC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.63_65delGGC	X.37:g.107979513_107979515delGCC	ENSP00000361202:p.Ala25del	True	False		Somatic	2					p.21_22AA>A	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	139_141	-			21			Poly-Ala.			In_Frame_Del	DEL	ENST00000372129.2	37	c.63_65delGGC	CCDS14544.1																																																																																				0.616	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107979510
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
SGK1	6446	broad.mit.edu	37	6	134491968	134491973	+	In_Frame_Del	DEL	TTTGGG	TTTGGG	-			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	TTTGGG	TTTGGG	-	-	TTTGGG	TTTGGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:134491968_134491973delTTTGGG	ENST00000237305.7	-	11	1207_1212	c.1119_1124delCCCAAA	c.(1117-1125)aacccaaat>aat	p.373_375NPN>N	SGK1_ENST00000528577.1_In_Frame_Del_p.401_403NPN>N|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000367857.5_In_Frame_Del_p.363_365NPN>N|SGK1_ENST00000413996.3_In_Frame_Del_p.387_389NPN>N|SGK1_ENST00000367858.5_In_Frame_Del_p.468_470NPN>N|SGK1_ENST00000475719.2_In_Frame_Del_p.329_331NPN>N	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	373	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACTCACCACATTTGGGTTAAAAGGGG	0.388																																						ENST00000367858.5		NA																	0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1402-1410)aacccaaat>aat		serum/glucocorticoid regulated kinase 1																																				SO:0001651	inframe_deletion	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134491968_134491973delTTTGGG	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1119_1124delCCCAAA	6.37:g.134491968_134491973delTTTGGG	ENSP00000237305:p.Asn373_Pro374del	True	False		Somatic	1				SGK1_ENST00000413996.3_In_Frame_Del_p.387_389NPN>N|SGK1_ENST00000528577.1_In_Frame_Del_p.401_403NPN>N|SGK1_ENST00000475719.2_In_Frame_Del_p.329_331NPN>N|SGK1_ENST00000367857.5_In_Frame_Del_p.363_365NPN>N|SGK1_ENST00000237305.7_In_Frame_Del_p.373_375NPN>N	p.468_470NPN>N	NM_001143676.1	NP_001137148.1	WXS	Illumina HiSeq	Phase_I	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	13	2001_2006	-	Colorectal(23;0.221)		373					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	In_Frame_Del	DEL	ENST00000237305.7	37	c.1404_1409delCCCAAA	CCDS5170.1																																																																																				0.388	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2	0			6:134491968
CBX3	11335	broad.mit.edu	37	7	26246131	26246132	+	Splice_Site	INS	-	-	CTGACAA			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:26246131_26246132insCTGACAA	ENST00000337620.4	+	3	595		c.e3+1		CBX3_ENST00000497498.1_Splice_Site|CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000409747.1_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						GATTTACAGAGTAAGAAACTTT	0.386																																						ENST00000337620.4		NA																	0				endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						c.e3+1		chromobox homolog 3																																				SO:0001630	splice_region_variant	11335				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	g.chr7:26246131_26246132insCTGACAA	U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.167+1->CTGACAA	7.37:g.26246131_26246132insCTGACAA		False	False		Somatic	0				CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000497498.1_Splice_Site|CBX3_ENST00000409747.1_Splice_Site		NM_007276.4	NP_009207.2	WXS	Illumina HiSeq	Phase_I	Q13185	CBX3_HUMAN			3	595	+			NA					Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Splice_Site	INS	ENST00000337620.4	37		CCDS5398.1																																																																																				0.386	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	0	NM_007276	Intron	7:26246131
LZTS1	11178	broad.mit.edu	37	8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	rs372940217|rs141716809|rs373668156|rs148039718	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657																																						ENST00000381569.1		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel		leucine zipper, putative tumor suppressor 1																																				SO:0001651	inframe_deletion	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	8.37:g.20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENSP00000370981:p.Arg432_Leu447del	True	False		Somatic	1				LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del	p.RTQDLEGALRTKGLEL432del			WXS	Illumina HiSeq	Phase_I	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1651_1698	-			432					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	In_Frame_Del	DEL	ENST00000381569.1	37	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	CCDS6015.1																																																																																				0.657	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	0	NM_021020		8:20107683
KAT6A	7994	broad.mit.edu	37	8	41834629	41834629	+	Silent	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr8:41834629G>A	ENST00000396930.3	-	8	1803	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	KAT6A_ENST00000485568.1_Silent_p.S420S|KAT6A_ENST00000406337.1_Silent_p.S420S|KAT6A_ENST00000265713.2_Silent_p.S420S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	420	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCCCATCAGGGGAAGGGGTAA	0.478																																						ENST00000396930.3		NA																	0					NA						c.(1258-1260)tcC>tcT		K(lysine) acetyltransferase 6A							106.0	100.0	102.0					8																	41834629		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41834629G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1260C>T	8.37:g.41834629G>A		True	False		Somatic	0				KAT6A_ENST00000485568.1_Silent_p.S420S|KAT6A_ENST00000406337.1_Silent_p.S420S|KAT6A_ENST00000265713.2_Silent_p.S420S	p.S420S	NM_001099412.1	NP_001092882.1	WXS	Illumina HiSeq	Phase_I	Q92794	MYST3_HUMAN			8	1803	-			420			Interaction with RUNX1-1.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.1260C>T	CCDS6124.1																																																																																				0.478	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	0	NM_006766		8:41834629
NOTCH2	4853	broad.mit.edu	37	1	120458964	120458964	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr1:120458964C>G	ENST00000256646.2	-	34	6600	c.6381G>C	c.(6379-6381)aaG>aaC	p.K2127N		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2127					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTACTACCCTTGGCATCCT	0.507			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2		NA		Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(6379-6381)aaG>aaC		notch 2							152.0	137.0	142.0					1																	120458964		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458964C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6381G>C	1.37:g.120458964C>G	ENSP00000256646:p.Lys2127Asn	True	False		Somatic	0					p.K2127N	NM_024408.3	NP_077719.2	WXS	Illumina HiSeq	Phase_I	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	6600	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2127					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.6381G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777249	0.31411	.	.	ENSG00000134250	ENST00000256646	D	0.83250	-1.7	5.5	4.59	0.56863	.	0.000000	0.39615	U	0.001310	T	0.69557	0.3124	M	0.61703	1.905	0.44012	D	0.996729	B	0.14438	0.01	B	0.10450	0.005	T	0.70934	-0.4737	10	0.51188	T	0.08	.	9.6325	0.39787	0.0:0.8419:0.0:0.1581	.	2127	Q04721	NOTC2_HUMAN	N	2127	ENSP00000256646:K2127N	ENSP00000256646:K2127N	K	-	3	2	NOTCH2	120260487	0.996000	0.38824	1.000000	0.80357	0.791000	0.44710	0.961000	0.29267	1.320000	0.45209	0.561000	0.74099	AAG		0.507	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	0	NM_024408		1:120458964
ADAMTS20	80070	broad.mit.edu	37	12	43886398	43886398	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr12:43886398G>A	ENST00000389420.3	-	6	985	c.986C>T	c.(985-987)aCa>aTa	p.T329I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T329I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	329	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTCTTTAATGTGGTAGCACC	0.363																																						ENST00000389420.3		NA																	0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(985-987)aCa>aTa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							163.0	131.0	142.0					12																	43886398		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43886398G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.986C>T	12.37:g.43886398G>A	ENSP00000374071:p.Thr329Ile	False	False		Somatic	0				ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T329I	p.T329I	NM_025003.3	NP_079279.3	WXS	Illumina HiSeq	Phase_I	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	6	985	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	329			Peptidase M12B.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.986C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000515	0.54147	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.65916	-0.18;-0.18	4.79	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.50627	D	0.000108	D	0.83880	0.5350	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87771	0.2605	10	0.87932	D	0	.	18.7307	0.91734	0.0:0.0:1.0:0.0	.	329	P59510	ATS20_HUMAN	I	329	ENSP00000374071:T329I;ENSP00000448341:T329I	ENSP00000374068:T329I	T	-	2	0	ADAMTS20	42172665	1.000000	0.71417	0.633000	0.29310	0.037000	0.13140	9.136000	0.94489	2.587000	0.87381	0.557000	0.71058	ACA		0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	0	NM_025003		12:43886398
BMS1P20	96610	broad.mit.edu	37	22	22661363	22661363	+	RNA	SNP	G	G	C	rs186737352	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr22:22661363G>C	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		GGGCAACAGCGAGGGAAATGT	0.502													.|||	6	0.00119808	0.0045	0.0	5008	,	,		17827	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1		NA																	0					NA																																														0							g.chr22:22661363G>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661363G>C		False	False		Somatic	0						NR_027293.1		WXS	Illumina HiSeq	Phase_I					0	360	+			NA						RNA	SNP	ENST00000426066.1	37																																																																																						0.502	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1	0			22:22661363
KLHL32	114792	broad.mit.edu	37	6	97424015	97424015	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:97424015C>A	ENST00000369261.4	+	3	529	c.166C>A	c.(166-168)Cac>Aac	p.H56N	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.H56N|KLHL32_ENST00000539200.1_Missense_Mutation_p.H56N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	56	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ATTCCATGCTCACAAGGCAGT	0.463																																						ENST00000369261.4		NA																	0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(166-168)Cac>Aac		kelch-like family member 32							105.0	81.0	89.0					6																	97424015		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97424015C>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.166C>A	6.37:g.97424015C>A	ENSP00000358265:p.His56Asn	False	False		Somatic	0				KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Missense_Mutation_p.H56N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H56N	p.H56N	NM_052904.3	NP_443136.2	WXS	Illumina HiSeq	Phase_I	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	3	529	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	56			BTB.		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.166C>A	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464888	0.84425	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.79141	-1.24;1.22;1.22;-1.24	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	M	0.89785	3.06	0.80722	D	1	D;P;D;D	0.89917	1.0;0.936;1.0;0.999	D;P;D;D	0.97110	0.999;0.885;1.0;0.995	D	0.91142	0.4946	10	0.87932	D	0	.	18.7846	0.91949	0.0:1.0:0.0:0.0	.	56;56;56;56	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	N	56	ENSP00000358265:H56N;ENSP00000440382:H56N;ENSP00000441527:H56N;ENSP00000358258:H56N	ENSP00000358258:H56N	H	+	1	0	KLHL32	97530736	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.320000	0.79064	2.674000	0.91012	0.591000	0.81541	CAC		0.463	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	0	NM_052904		6:97424015
MMP13	4322	broad.mit.edu	37	11	102816457	102816457	+	Silent	SNP	A	A	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:102816457A>T	ENST00000260302.3	-	9	1261	c.1233T>A	c.(1231-1233)atT>atA	p.I411I	MMP13_ENST00000340273.4_Silent_p.I411I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	411	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	CTTTATCCATAATATGGTTAG	0.303																																						ENST00000260302.3		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1231-1233)atT>atA		matrix metallopeptidase 13 (collagenase 3)							110.0	111.0	111.0					11																	102816457		2202	4298	6500	SO:0001819	synonymous_variant	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102816457A>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1233T>A	11.37:g.102816457A>T		False	False		Somatic	0				MMP13_ENST00000340273.4_Silent_p.I411I	p.I411I	NM_002427.3	NP_002418.1	WXS	Illumina HiSeq	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	9	1261	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	411			Hemopexin-like 3.		A8K846|B2RCZ3|Q6NWN6	Silent	SNP	ENST00000260302.3	37	c.1233T>A	CCDS8324.1																																																																																				0.303	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	0	NM_002427		11:102816457
KBTBD6	89890	broad.mit.edu	37	13	41705969	41705969	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr13:41705969G>A	ENST00000379485.1	-	1	913	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R161C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	227										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTATCCAAGCGCAGGACAGCC	0.577																																						ENST00000379485.1		NA																	0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(679-681)Cgc>Tgc		kelch repeat and BTB (POZ) domain containing 6							78.0	76.0	77.0					13																	41705969		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705969G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.679C>T	13.37:g.41705969G>A	ENSP00000368799:p.Arg227Cys	False	False		Somatic	0				KBTBD6_ENST00000499385.2_Missense_Mutation_p.R161C	p.R227C	NM_152903.4	NP_690867.3	WXS	Illumina HiSeq	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	913	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	227					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.679C>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	8.936	0.964565	0.18583	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.69926	-0.44;-0.44	3.69	2.84	0.33178	BTB/Kelch-associated (2);	0.403521	0.25071	N	0.033363	T	0.53465	0.1798	L	0.47716	1.5	0.39301	D	0.964912	B;B	0.16396	0.013;0.017	B;B	0.12156	0.006;0.007	T	0.52177	-0.8610	10	0.46703	T	0.11	.	4.7523	0.13066	0.1156:0.0:0.6731:0.2113	.	161;227	F5GZN7;Q86V97	.;KBTB6_HUMAN	C	227;161	ENSP00000368799:R227C;ENSP00000444326:R161C	ENSP00000368799:R227C	R	-	1	0	KBTBD6	40603969	0.993000	0.37304	0.992000	0.48379	0.726000	0.41606	0.964000	0.29306	0.891000	0.36235	0.462000	0.41574	CGC		0.577	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	0	NM_152903		13:41705969
LRFN1	57622	broad.mit.edu	37	19	39804836	39804836	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr19:39804836C>T	ENST00000248668.4	-	1	1140	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	381	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCCACGGGCGCCGTCGCTTCC	0.692																																						ENST00000248668.4		NA																	0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1141-1143)Gcg>Acg		leucine rich repeat and fibronectin type III domain containing 1							24.0	30.0	28.0					19																	39804836		2176	4262	6438	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39804836C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1141G>A	19.37:g.39804836C>T	ENSP00000248668:p.Ala381Thr	False	False		Somatic	0					p.A381T	NM_020862.1	NP_065913.1	WXS	Illumina HiSeq	Phase_I	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	1140	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		381			Ig-like.		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1141G>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510446	0.64522	.	.	ENSG00000128011	ENST00000248668	T	0.68624	-0.34	4.53	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000444	T	0.65923	0.2738	N	0.25286	0.73	0.58432	D	0.999998	P	0.46952	0.887	P	0.55391	0.775	T	0.66492	-0.5910	10	0.40728	T	0.16	.	14.7902	0.69837	0.0:1.0:0.0:0.0	.	381	Q9P244	LRFN1_HUMAN	T	381	ENSP00000248668:A381T	ENSP00000248668:A381T	A	-	1	0	LRFN1	44496676	0.996000	0.38824	0.615000	0.29064	0.472000	0.32918	2.624000	0.46444	2.352000	0.79861	0.655000	0.94253	GCG		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	0	NM_020862		19:39804836
PHKA2	5256	broad.mit.edu	37	X	18956750	18956750	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:18956750C>G	ENST00000379942.4	-	10	1701	c.1036G>C	c.(1036-1038)Gtt>Ctt	p.V346L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	346					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTCACCTGAACAGCATCACCA	0.368																																						ENST00000379942.4		NA																	0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1036-1038)Gtt>Ctt		phosphorylase kinase, alpha 2 (liver)							110.0	102.0	104.0					X																	18956750		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18956750C>G		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1036G>C	X.37:g.18956750C>G	ENSP00000369274:p.Val346Leu	False	False		Somatic	0					p.V346L	NM_000292.2	NP_000283.1	WXS	Illumina HiSeq	Phase_I	P46019	KPB2_HUMAN			10	1701	-	Hepatocellular(33;0.183)		346					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.1036G>C	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	c	13.19	2.163684	0.38217	.	.	ENSG00000044446	ENST00000379942	D	0.92805	-3.11	4.53	3.65	0.41850	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.184470	0.46145	N	0.000306	D	0.85457	0.5701	L	0.38175	1.15	0.38841	D	0.956057	B	0.02656	0.0	B	0.08055	0.003	T	0.78961	-0.1997	10	0.41790	T	0.15	-9.3948	6.1366	0.20237	0.0:0.6738:0.1786:0.1476	.	346	P46019	KPB2_HUMAN	L	346	ENSP00000369274:V346L	ENSP00000369274:V346L	V	-	1	0	PHKA2	18866671	0.974000	0.33945	0.709000	0.30452	0.843000	0.47879	3.060000	0.49955	0.809000	0.34255	0.597000	0.82753	GTT		0.368	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	0	NM_000292		X:18956750
KIZ-AS1	101929591	broad.mit.edu	37	20	21143079	21143079	+	RNA	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr20:21143079G>A	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							TCCGATACCAGTTTCAGAATA	0.463																																						ENST00000591761.1		NA																	0					NA															31.0	33.0	32.0					20																	21143079		1852	4095	5947			0							g.chr20:21143079G>A																													20.37:g.21143079G>A		True	False		Somatic	0				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA				WXS	Illumina HiSeq	Phase_I					0	5142	-			NA						RNA	SNP	ENST00000591761.1	37																																																																																						0.463	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2	0			20:21143079
BABAM1	29086	broad.mit.edu	37	19	17384765	17384765	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr19:17384765C>T	ENST00000359435.4	+	4	590	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	CTD-2278I10.6_ENST00000596542.1_Missense_Mutation_p.R55W|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000447614.2_Missense_Mutation_p.R133W|BABAM1_ENST00000601043.1_Missense_Mutation_p.R133W|BABAM1_ENST00000595632.1_Intron|BABAM1_ENST00000598188.1_Missense_Mutation_p.R133W	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	133	VWFA-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						GATGTTCGTGCGGACAAAACA	0.582																																						ENST00000359435.4		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(397-399)Cgg>Tgg		BRISC and BRCA1 A complex member 1							69.0	75.0	73.0					19																	17384765		2094	4217	6311	SO:0001583	missense	29086				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	g.chr19:17384765C>T	AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"""Mediator of Rap80 Interactions and Targeting 40 kD"", ""new component of the BRCA1 A complex"""	612766	"""chromosome 19 open reading frame 62"""	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.397C>T	19.37:g.17384765C>T	ENSP00000352408:p.Arg133Trp	False	False		Somatic	0				CTD-2278I10.6_ENST00000596542.1_Missense_Mutation_p.R55W|BABAM1_ENST00000595632.1_Intron|BABAM1_ENST00000598188.1_Missense_Mutation_p.R133W|BABAM1_ENST00000601043.1_Missense_Mutation_p.R133W|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000447614.2_Missense_Mutation_p.R133W	p.R133W	NM_001033549.1	NP_001028721.1	WXS	Illumina HiSeq	Phase_I	Q9NWV8	BABA1_HUMAN			4	590	+			133			VWFA-like.		A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Missense_Mutation	SNP	ENST00000359435.4	37	c.397C>T	CCDS46012.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994990	0.35226	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000300965	.	.	.	5.62	-0.522	0.11928	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	L	0.57536	1.79	0.53005	D	0.999964	D	0.76494	0.999	D	0.70016	0.967	T	0.64015	-0.6506	9	0.72032	D	0.01	-26.763	8.4077	0.32625	0.5152:0.4119:0.0:0.0729	.	133	Q9NWV8	BABA1_HUMAN	W	133;133;55	.	ENSP00000300965:R55W	R	+	1	2	BABAM1	17245765	0.654000	0.27367	0.007000	0.13788	0.008000	0.06430	1.096000	0.30976	0.010000	0.14839	-0.152000	0.13540	CGG		0.582	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1	0	NM_014173		19:17384765
KIF24	347240	broad.mit.edu	37	9	34311094	34311094	+	Missense_Mutation	SNP	C	C	T	rs369743252		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr9:34311094C>T	ENST00000402558.2	-	1	275	c.251G>A	c.(250-252)cGc>cAc	p.R84H	KIF24_ENST00000379174.3_Missense_Mutation_p.R84H|KIF24_ENST00000345050.2_Missense_Mutation_p.R84H|KIF24_ENST00000379166.2_Missense_Mutation_p.R84H			Q5T7B8	KIF24_HUMAN	kinesin family member 24	84					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGATTTGATGCGCAGGCTGCT	0.418																																						ENST00000379166.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(250-252)cGc>cAc		kinesin family member 24							98.0	89.0	92.0					9																	34311094		1913	4123	6036	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34311094C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.251G>A	9.37:g.34311094C>T	ENSP00000384433:p.Arg84His	False	False		Somatic	0				KIF24_ENST00000379174.3_Missense_Mutation_p.R84H|KIF24_ENST00000402558.2_Missense_Mutation_p.R84H|KIF24_ENST00000345050.2_Missense_Mutation_p.R84H	p.R84H	NM_194313.2	NP_919289.2	WXS	Illumina HiSeq	Phase_I	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		2	370	-			84					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.251G>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.298945	0.00243	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.33	-3.11	0.05299	.	1.777690	0.03267	N	0.184207	T	0.06142	0.0159	N	0.03608	-0.345	0.09310	N	1	B;B	0.26258	0.145;0.054	B;B	0.14023	0.01;0.004	T	0.24225	-1.0166	10	0.15952	T	0.53	.	4.7677	0.13141	0.1156:0.463:0.1071:0.3143	.	84;84	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	H	84	ENSP00000384433:R84H;ENSP00000368472:R84H;ENSP00000368464:R84H;ENSP00000340179:R84H	ENSP00000340179:R84H	R	-	2	0	KIF24	34301094	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.077000	0.11394	-0.464000	0.06963	-0.312000	0.09012	CGC		0.418	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5	0			9:34311094
IL20RA	53832	broad.mit.edu	37	6	137323028	137323028	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:137323028C>T	ENST00000316649.5	-	7	1564	c.1329G>A	c.(1327-1329)ccG>ccA	p.P443P	IL20RA_ENST00000367748.1_Silent_p.P332P|IL20RA_ENST00000541547.1_Silent_p.P394P|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000468393.1_5'Flank	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	443					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GTAACGTTTGCGGGCCCAAGA	0.587																																						ENST00000367748.1		NA																	0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(994-996)ccG>ccA		interleukin 20 receptor, alpha							76.0	66.0	70.0					6																	137323028		2203	4300	6503	SO:0001819	synonymous_variant	53832					integral to membrane	receptor activity	g.chr6:137323028C>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1329G>A	6.37:g.137323028C>T		True	False		Somatic	0				IL20RA_ENST00000316649.5_Silent_p.P443P|IL20RA_ENST00000541547.1_Silent_p.P394P	p.P332P	NM_001278723.1	NP_001265652.1	WXS	Illumina HiSeq	Phase_I	Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1582	-	Colorectal(23;0.24)		443					B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Silent	SNP	ENST00000316649.5	37	c.996G>A	CCDS5181.1																																																																																				0.587	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	0	NM_014432		6:137323028
NEK5	341676	broad.mit.edu	37	13	52661584	52661584	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr13:52661584G>A	ENST00000355568.4	-	15	1421	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	428					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R485G(1)|p.R428G(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAGATGGACGAAGACCCTAT	0.343																																						ENST00000355568.4		NA																	2	Substitution - Missense(2)	p.R485G(1)|p.R428G(1)	kidney(2)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1282-1284)Cgt>Tgt		NIMA-related kinase 5							108.0	101.0	103.0					13																	52661584		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52661584G>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1282C>T	13.37:g.52661584G>A	ENSP00000347767:p.Arg428Cys	False	False		Somatic	0					p.R428C	NM_199289.1	NP_954983.1	WXS	Illumina HiSeq	Phase_I	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	15	1421	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	428					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1282C>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913462	0.52439	.	.	ENSG00000197168	ENST00000355568	T	0.79247	-1.25	5.45	2.83	0.33086	.	0.000000	0.64402	D	0.000003	D	0.84061	0.5389	M	0.65498	2.005	0.33027	D	0.529691	D	0.89917	1.0	D	0.91635	0.999	D	0.85308	0.1077	10	0.87932	D	0	.	7.7703	0.29004	0.2616:0.0:0.7384:0.0	.	428	Q6P3R8	NEK5_HUMAN	C	428	ENSP00000347767:R428C	ENSP00000347767:R428C	R	-	1	0	NEK5	51559585	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	1.885000	0.39678	0.286000	0.22352	-0.812000	0.03155	CGT		0.343	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	0	NM_199289		13:52661584
CDH10	1008	broad.mit.edu	37	5	24505322	24505322	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr5:24505322A>G	ENST00000264463.4	-	8	1799	c.1292T>C	c.(1291-1293)aTc>aCc	p.I431T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATGTTAAAGATTCTGTCAAG	0.368										HNSCC(23;0.051)																												ENST00000264463.4		NA																	0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1291-1293)aTc>aCc		cadherin 10, type 2 (T2-cadherin)							99.0	95.0	96.0					5																	24505322		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24505322A>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1292T>C	5.37:g.24505322A>G	ENSP00000264463:p.Ile431Thr	False	False	HNSCC(23;0.051)	Somatic	0					p.I431T	NM_006727.3	NP_006718.2	WXS	Illumina HiSeq	Phase_I	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1799	-			431			Cadherin 4.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1292T>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056941	0.55325	.	.	ENSG00000040731	ENST00000264463	T	0.50548	0.74	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.053511	0.64402	D	0.000001	T	0.46210	0.1381	L	0.49640	1.575	0.46241	D	0.998949	B	0.21606	0.058	B	0.26202	0.067	T	0.41070	-0.9529	10	0.52906	T	0.07	.	14.9114	0.70761	1.0:0.0:0.0:0.0	.	431	Q9Y6N8	CAD10_HUMAN	T	431	ENSP00000264463:I431T	ENSP00000264463:I431T	I	-	2	0	CDH10	24541079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.096000	0.76960	2.102000	0.63906	0.533000	0.62120	ATC		0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	0	NM_006727		5:24505322
ANK2	287	broad.mit.edu	37	4	114277476	114277476	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:114277476T>G	ENST00000357077.4	+	38	7755	c.7702T>G	c.(7702-7704)Tgt>Ggt	p.C2568G	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.C2535G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2568					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATTCATGAATGTGCAGAGGA	0.433																																						ENST00000357077.4		NA																	0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7702-7704)Tgt>Ggt		ankyrin 2, neuronal							105.0	108.0	107.0					4																	114277476		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277476T>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7702T>G	4.37:g.114277476T>G	ENSP00000349588:p.Cys2568Gly	False	False		Somatic	0				ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.C2535G	p.C2568G	NM_001148.4	NP_001139.3	WXS	Illumina HiSeq	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7755	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2535					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7702T>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379860	0.61845	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66815	-0.22;-0.23	5.81	5.81	0.92471	.	0.222920	0.31542	N	0.007467	T	0.69061	0.3069	L	0.60455	1.87	0.80722	D	1	B;P	0.50272	0.001;0.933	B;P	0.49829	0.002;0.623	T	0.69774	-0.5054	9	.	.	.	.	11.6148	0.51083	0.0:0.0:0.2662:0.7338	.	2535;2568	Q01484;Q01484-4	ANK2_HUMAN;.	G	2568;2535	ENSP00000349588:C2568G;ENSP00000264366:C2535G	.	C	+	1	0	ANK2	114496925	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	4.953000	0.63624	2.216000	0.71823	0.533000	0.62120	TGT		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	NM_001148		4:114277476
ANKRD50	57182	broad.mit.edu	37	4	125592599	125592599	+	Silent	SNP	A	A	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:125592599A>G	ENST00000504087.1	-	4	2870	c.1833T>C	c.(1831-1833)ggT>ggC	p.G611G	ANKRD50_ENST00000515641.1_Silent_p.G432G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	611										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATGCTGTCCAACCATCTTGAT	0.453																																						ENST00000504087.1		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(1831-1833)ggT>ggC		ankyrin repeat domain 50							111.0	103.0	106.0					4																	125592599		2203	4300	6503	SO:0001819	synonymous_variant	57182							g.chr4:125592599A>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1833T>C	4.37:g.125592599A>G		False	False		Somatic	0				ANKRD50_ENST00000515641.1_Silent_p.G432G	p.G611G	NM_020337.2	NP_065070.1	WXS	Illumina HiSeq	Phase_I	Q9ULJ7	ANR50_HUMAN			4	2870	-			611					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	c.1833T>C	CCDS34060.1																																																																																				0.453	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	0	NM_020337		4:125592599
POF1B	79983	broad.mit.edu	37	X	84560887	84560887	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:84560887C>T	ENST00000262753.4	-	13	1492	c.1347G>A	c.(1345-1347)ttG>ttA	p.L449L	POF1B_ENST00000373145.3_Silent_p.L449L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	449						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTTAGCCTGCAACATTGGGC	0.388																																						ENST00000262753.4		NA																	0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(1345-1347)ttG>ttA		premature ovarian failure, 1B							167.0	142.0	150.0					X																	84560887		2203	4300	6503	SO:0001819	synonymous_variant	79983						actin binding	g.chrX:84560887C>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1347G>A	X.37:g.84560887C>T		False	False		Somatic	0				POF1B_ENST00000373145.3_Silent_p.L449L	p.L449L	NM_024921.3	NP_079197.3	WXS	Illumina HiSeq	Phase_I	Q8WVV4	POF1B_HUMAN			13	1492	-			449					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	c.1347G>A	CCDS14452.1																																																																																				0.388	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	0	NM_024921		X:84560887
IMPDH1	3614	broad.mit.edu	37	7	128035057	128035057	+	Missense_Mutation	SNP	G	G	A	rs201001000	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:128035057G>A	ENST00000480861.1	-	11	1243	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	IMPDH1_ENST00000354269.5_Missense_Mutation_p.T469M|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T369M|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T443M|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T393M|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T369M|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T410M|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T446M|IMPDH1_ENST00000338791.6_Missense_Mutation_p.T479M	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						AGGGGCCTCCGTAGTGGCGGC	0.642													G|||	5	0.000998403	0.0008	0.0	5008	,	,		17356	0.004		0.0	False		,,,				2504	0.0					ENST00000338791.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(1435-1437)aCg>aTg		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						45.0	55.0	52.0					7																	128035057		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128035057G>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1166C>T	7.37:g.128035057G>A	ENSP00000420185:p.Thr389Met	False	False		Somatic	0				IMPDH1_ENST00000480861.1_Missense_Mutation_p.T389M|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T443M|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T393M|IMPDH1_ENST00000354269.5_Missense_Mutation_p.T469M|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T369M|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T410M|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T446M|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T369M	p.T479M	NM_000883.3	NP_000874.2	WXS	Illumina HiSeq	Phase_I	P20839	IMDH1_HUMAN			14	1786	-			394						Missense_Mutation	SNP	ENST00000480861.1	37	c.1436C>T	CCDS55161.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	19.24	3.788614	0.70337	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.62	4.62	0.57501	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;0.998;0.999;0.999;0.996;0.997;0.994	D;D;D;D;D;P;P;P	0.70016	0.967;0.935;0.92;0.955;0.955;0.823;0.889;0.893	D	0.86285	0.1670	10	0.87932	D	0	-11.3859	15.0316	0.71710	0.0:0.0:1.0:0.0	.	446;389;394;410;469;443;479;369	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	M	446;479;369;469;410;443;369;393;389	ENSP00000399400:T446M;ENSP00000345096:T479M;ENSP00000420803:T369M;ENSP00000346219:T469M;ENSP00000367989:T410M;ENSP00000265385:T443M;ENSP00000342438:T369M;ENSP00000417296:T393M;ENSP00000420185:T389M	ENSP00000345096:T479M	T	-	2	0	IMPDH1	127822293	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.218000	0.95166	2.409000	0.81822	0.561000	0.74099	ACG		0.642	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	0	NM_000883		7:128035057
MT1B	4490	broad.mit.edu	37	16	56686964	56686964	+	Missense_Mutation	SNP	G	G	A	rs200369659		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:56686964G>A	ENST00000334346.2	+	3	228	c.173G>A	c.(172-174)cGc>cAc	p.R58H	MT1B_ENST00000562399.1_Silent_p.P57P|RP11-249C24.11_ENST00000568608.1_RNA	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	58	Alpha.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						GAGAAGTGCCGCTGCTGTGCC	0.542																																						ENST00000334346.2		NA																	0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(172-174)cGc>cAc		metallothionein 1B							94.0	93.0	93.0					16																	56686964		2198	4300	6498	SO:0001583	missense	4490					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56686964G>A	AY168638	CCDS10765.1	16q13	2008-02-05	2007-03-02		ENSG00000169688	ENSG00000169688		"""Metallothioneins"""	7394	protein-coding gene	gene with protein product		156349	"""metallothionein 1Q"""	MT1, MT1Q		6089206, 3785191	Standard	NM_005947		Approved		uc002ejs.3	P07438	OTTHUMG00000133277	ENST00000334346.2:c.173G>A	16.37:g.56686964G>A	ENSP00000334998:p.Arg58His	False	False		Somatic	0				MT1B_ENST00000562399.1_Silent_p.P57P	p.R58H	NM_005947.2	NP_005938.1	WXS	Illumina HiSeq	Phase_I	P07438	MT1B_HUMAN			3	228	+			58			Alpha.		Q86YX0	Missense_Mutation	SNP	ENST00000334346.2	37	c.173G>A	CCDS10765.1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738792	0.15642	.	.	ENSG00000169688	ENST00000334346	T	0.09911	2.93	3.06	0.876	0.19138	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.285648	0.28140	U	0.016444	T	0.07413	0.0187	.	.	.	0.80722	D	1	P	0.39116	0.66	B	0.32762	0.152	T	0.24693	-1.0153	9	0.87932	D	0	.	5.4103	0.16344	0.1233:0.2054:0.6713:0.0	.	58	P07438	MT1B_HUMAN	H	58	ENSP00000334998:R58H	ENSP00000334998:R58H	R	+	2	0	MT1B	55244465	1.000000	0.71417	0.895000	0.35142	0.011000	0.07611	1.851000	0.39338	0.104000	0.17725	-0.279000	0.10071	CGC		0.542	MT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257057.2	0	NM_005947		16:56686964
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418													t|||	2	0.000399361	0.0	0.0029	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2		NA																	6	Substitution - Missense(6)	p.I1077V(3)|p.I1029V(3)	lung(2)|prostate(2)|endometrium(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3229-3231)Ata>Gta		HYDIN, axonemal central pair apparatus protein							129.0	123.0	125.0					16																	71054178		1855	4094	5949	SO:0001583	missense	54768							g.chr16:71054178T>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val	False	False		Somatic	0				HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	p.I1077V	NM_001270974.1	NP_001257903.1	WXS	Illumina HiSeq	Phase_I	Q4G0P3	HYDIN_HUMAN			22	3379	-		Ovarian(137;0.0654)	1077		I -> V (in dbSNP:rs6416709).			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3229A>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0			16:71054178
WNT7A	7476	broad.mit.edu	37	3	13860786	13860786	+	Silent	SNP	G	G	A	rs536761427		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr3:13860786G>A	ENST00000285018.4	-	4	1009	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	235					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCACGTGAACGGCCTCGTTGT	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		13197	0.0		0.0	False		,,,				2504	0.001					ENST00000285018.4		NA																	0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(703-705)gcC>gcT		wingless-type MMTV integration site family, member 7A							109.0	102.0	105.0					3																	13860786		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860786G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.705C>T	3.37:g.13860786G>A		False	False		Somatic	0					p.A235A	NM_004625.3	NP_004616.2	WXS	Illumina HiSeq	Phase_I	O00755	WNT7A_HUMAN			4	1009	-			235					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.705C>T	CCDS2616.1																																																																																				0.622	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	0	NM_004625		3:13860786
CDK6	1021	broad.mit.edu	37	7	92462588	92462588	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:92462588G>T	ENST00000265734.4	-	2	461	c.50C>A	c.(49-51)gCg>gAg	p.A17E	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Missense_Mutation_p.A17E	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	17	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCCGATCTCCGCCACGCATTC	0.721			T	MLLT10	ALL																																	ENST00000265734.4		NA		Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(49-51)gCg>gAg		cyclin-dependent kinase 6							23.0	16.0	19.0					7																	92462588		2195	4287	6482	SO:0001583	missense	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92462588G>T		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.50C>A	7.37:g.92462588G>T	ENSP00000265734:p.Ala17Glu	False	False		Somatic	0				CDK6_ENST00000424848.2_Missense_Mutation_p.A17E	p.A17E	NM_001259.6	NP_001250.1	WXS	Illumina HiSeq	Phase_I	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		2	461	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		17			Protein kinase.		A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	c.50C>A	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748628	0.49257	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.39056	1.1;1.1	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	N	0.01219	-0.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.36237	-0.9756	10	0.02654	T	1	-2.5446	19.3835	0.94546	0.0:0.0:1.0:0.0	.	17	Q00534	CDK6_HUMAN	E	17	ENSP00000265734:A17E;ENSP00000397087:A17E	ENSP00000265734:A17E	A	-	2	0	CDK6	92300524	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.695000	0.98691	2.586000	0.87340	0.557000	0.71058	GCG		0.721	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2	0			7:92462588
HRASLS	57110	broad.mit.edu	37	3	192988436	192988436	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr3:192988436T>A	ENST00000602513.1	+	4	858	c.449T>A	c.(448-450)gTt>gAt	p.V150D	HRASLS_ENST00000264735.2_Missense_Mutation_p.V255D			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	150					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		ACAGCTGCTGTTGGTGTCTTC	0.378																																						ENST00000264735.2		NA																	0				breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10						c.(763-765)gTt>gAt		HRAS-like suppressor							167.0	153.0	158.0					3																	192988436		2203	4300	6503	SO:0001583	missense	57110							g.chr3:192988436T>A	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.449T>A	3.37:g.192988436T>A	ENSP00000473258:p.Val150Asp	False	False		Somatic	0				HRASLS_ENST00000602513.1_Missense_Mutation_p.V150D	p.V255D	NM_020386.4	NP_065119.2	WXS	Illumina HiSeq	Phase_I	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)	4	858	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		150					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.764T>A		.	.	.	.	.	.	.	.	.	.	T	15.20	2.763169	0.49574	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.64	2.63	0.31362	.	0.234074	0.43416	D	0.000571	T	0.24967	0.0606	N	0.14661	0.345	0.42689	D	0.99357	P	0.43169	0.8	B	0.32289	0.143	T	0.05801	-1.0863	9	0.54805	T	0.06	-6.1788	10.6667	0.45734	0.0:0.8466:0.0:0.1534	.	150	Q9HDD0	HRSL1_HUMAN	D	150	.	ENSP00000264735:V150D	V	+	2	0	HRASLS	194471130	0.958000	0.32768	0.982000	0.44146	0.968000	0.65278	2.072000	0.41510	0.359000	0.24239	-0.263000	0.10527	GTT		0.378	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0			3:192988436
CD226	10666	broad.mit.edu	37	18	67614045	67614045	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr18:67614045C>T	ENST00000280200.4	-	3	575	c.307G>A	c.(307-309)Gtt>Att	p.V103I	CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V103I	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	103	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TAGTAGCCAACATCATCTTCA	0.418																																					NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4		NA																	0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(307-309)Gtt>Att		CD226 molecule							114.0	104.0	108.0					18																	67614045		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67614045C>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.307G>A	18.37:g.67614045C>T	ENSP00000280200:p.Val103Ile	False	False		Somatic	0				CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V103I|CD226_ENST00000581982.1_Intron	p.V103I	NM_006566.2	NP_006557.2	WXS	Illumina HiSeq	Phase_I	Q15762	CD226_HUMAN			3	575	-		Esophageal squamous(42;0.129)	103			Ig-like C2-type 1.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.307G>A	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	4.746	0.138729	0.09083	.	.	ENSG00000150637	ENST00000280200	T	0.64803	-0.12	5.51	0.462	0.16695	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.314578	0.33916	N	0.004434	T	0.31606	0.0802	N	0.05510	-0.035	0.09310	N	1	B	0.20368	0.044	B	0.20577	0.03	T	0.13124	-1.0521	10	0.14252	T	0.57	.	4.3927	0.11348	0.0:0.4783:0.1594:0.3623	.	103	Q15762	CD226_HUMAN	I	103	ENSP00000280200:V103I	ENSP00000280200:V103I	V	-	1	0	CD226	65765025	0.000000	0.05858	0.009000	0.14445	0.442000	0.32017	-0.509000	0.06336	0.077000	0.16863	0.655000	0.94253	GTT		0.418	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	0	NM_006566		18:67614045
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs59641550		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1		NA																	8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu	False	False		Somatic	0					p.Q59E	NM_001127212.1	NP_001120684.1	WXS	Illumina HiSeq	Phase_I					3	258	+	Ovarian(276;0.236)		NA						Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3	0			X:49355893
GPLD1	2822	broad.mit.edu	37	6	24450108	24450108	+	Missense_Mutation	SNP	G	G	A	rs149093201		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:24450108G>A	ENST00000230036.1	-	15	1465	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	452					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGCCAAGGCCGAGCCAAACCG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16847	0.0		0.0	False		,,,				2504	0.0					ENST00000230036.1		NA																	0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1354-1356)tCg>tTg		glycosylphosphatidylinositol specific phospholipase D1		G	LEU/SER	0,4406		0,0,2203	107.0	99.0	101.0		1355	5.1	0.9	6	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPLD1	NM_001503.2	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	452/841	24450108	2,13004	2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24450108G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1355C>T	6.37:g.24450108G>A	ENSP00000230036:p.Ser452Leu	False	False		Somatic	0					p.S452L	NM_001503.3	NP_001494.2	WXS	Illumina HiSeq	Phase_I	P80108	PHLD_HUMAN			15	1465	-			452					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.1355C>T	CCDS4553.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	20.6	4.024960	0.75390	0.0	2.33E-4	ENSG00000112293	ENST00000230036	T	0.69561	-0.41	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000017	T	0.73946	0.3652	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69439	-0.5145	10	0.18276	T	0.48	-12.1527	18.1339	0.89610	0.0:0.0:1.0:0.0	.	452	P80108	PHLD_HUMAN	L	452	ENSP00000230036:S452L	ENSP00000230036:S452L	S	-	2	0	GPLD1	24558087	1.000000	0.71417	0.934000	0.37439	0.948000	0.59901	6.383000	0.73172	2.368000	0.80403	0.591000	0.81541	TCG		0.622	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	0	NM_001503		6:24450108
LRRTM4	80059	broad.mit.edu	37	2	77746270	77746270	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr2:77746270C>T	ENST00000409093.1	-	3	1061	c.725G>A	c.(724-726)cGc>cAc	p.R242H	LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R242H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	242					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.R242H(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTAATGGAGCGAATCCTGTT	0.448																																						ENST00000409088.3		NA																	2	Substitution - Missense(2)	p.R242H(2)	large_intestine(2)	autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(724-726)cGc>cAc		leucine rich repeat transmembrane neuronal 4							57.0	54.0	55.0					2																	77746270		1891	4099	5990	SO:0001583	missense	80059					integral to membrane		g.chr2:77746270C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.725G>A	2.37:g.77746270C>T	ENSP00000386357:p.Arg242His	False	False		Somatic	0				LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R242H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243H	p.R242H	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	WXS	Illumina HiSeq	Phase_I	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1139	-			242					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.725G>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853202	0.51270	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.93	5.93	0.95920	.	0.133674	0.50627	D	0.000114	T	0.66036	0.2749	N	0.25031	0.7	0.44570	D	0.997532	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.97;0.949;0.983	T	0.68112	-0.5495	10	0.62326	D	0.03	.	18.9104	0.92481	0.0:1.0:0.0:0.0	.	243;242;242	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	243;242;242;242;243	ENSP00000387228:R243H;ENSP00000387297:R242H;ENSP00000386357:R242H;ENSP00000386236:R242H;ENSP00000386286:R243H	ENSP00000386236:R242H	R	-	2	0	LRRTM4	77599778	0.966000	0.33281	1.000000	0.80357	0.997000	0.91878	1.999000	0.40806	2.798000	0.96311	0.655000	0.94253	CGC		0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	0	NM_024993		2:77746270
ASB2	51676	broad.mit.edu	37	14	94413764	94413764	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr14:94413764G>A	ENST00000315988.4	-	5	1327	c.839C>T	c.(838-840)gCc>gTc	p.A280V	ASB2_ENST00000555019.1_Missense_Mutation_p.A328V|ASB2_ENST00000556337.1_Intron|MIR4506_ENST00000584693.1_RNA	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	280					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GTTGGCGTCGGCACCCTGTGA	0.617																																						ENST00000555019.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(982-984)gCc>gTc		ankyrin repeat and SOCS box containing 2							213.0	164.0	180.0					14																	94413764		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94413764G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.839C>T	14.37:g.94413764G>A	ENSP00000320675:p.Ala280Val	False	False		Somatic	0				ASB2_ENST00000315988.4_Missense_Mutation_p.A280V|ASB2_ENST00000556337.1_Intron	p.A328V	NM_001202429.1	NP_001189358.1	WXS	Illumina HiSeq	Phase_I	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	7	1413	-		all_cancers(154;0.13)	280					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.983C>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393915	0.96009	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.61510	1.81;1.81;0.1	5.19	5.19	0.71726	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.73753	2.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.79843	-0.1632	10	0.72032	D	0.01	-18.3735	18.7174	0.91680	0.0:0.0:1.0:0.0	.	296;328;280	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	V	328;296;280;226;226	ENSP00000451575:A328V;ENSP00000320675:A280V;ENSP00000450940:A226V	ENSP00000320675:A280V	A	-	2	0	ASB2	93483517	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.869000	0.99810	2.417000	0.82017	0.462000	0.41574	GCC		0.617	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1	0			14:94413764
SPNS3	201305	broad.mit.edu	37	17	4356344	4356344	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:4356344C>T	ENST00000355530.2	+	8	1237	c.957C>T	c.(955-957)ggC>ggT	p.G319G	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.G192G	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	319					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						TCATGACCGGCGTCATTGGGG	0.567																																						ENST00000355530.2		NA																	0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(955-957)ggC>ggT		spinster homolog 3 (Drosophila)							91.0	85.0	87.0					17																	4356344		2203	4300	6503	SO:0001819	synonymous_variant	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4356344C>T		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.957C>T	17.37:g.4356344C>T		False	False		Somatic	0				SPNS3_ENST00000333476.2_Silent_p.G192G|SPNS3_ENST00000576069.1_3'UTR	p.G319G	NM_182538.4	NP_872344.3	WXS	Illumina HiSeq	Phase_I	Q6ZMD2	SPNS3_HUMAN			8	1237	+			319					Q8IZ31	Silent	SNP	ENST00000355530.2	37	c.957C>T	CCDS11045.1																																																																																				0.567	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	0	NM_182538		17:4356344
MAP3K15	389840	broad.mit.edu	37	X	19392682	19392682	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:19392682G>A	ENST00000338883.4	-	20	2685	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	MAP3K15_ENST00000469203.2_Missense_Mutation_p.R728C|MAP3K15_ENST00000518578.1_5'UTR|Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R331C	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	896	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTGGTGGCACGTTTGTGGGGG	0.537													G|||	1	0.000264901	0.0	0.0	3775	,	,		14922	0.001		0.0	False		,,,				2504	0.0					ENST00000338883.4		NA																	0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2686-2688)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 15							128.0	101.0	110.0					X																	19392682		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19392682G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2686C>T	X.37:g.19392682G>A	ENSP00000345629:p.Arg896Cys	True	False		Somatic	0				MAP3K15_ENST00000359173.3_Missense_Mutation_p.R331C|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R728C|MAP3K15_ENST00000518578.1_5'UTR	p.R896C	NM_001001671.3	NP_001001671.3	WXS	Illumina HiSeq	Phase_I	Q6ZN16	M3K15_HUMAN			20	2685	-	Hepatocellular(33;0.183)		896			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.2686C>T		.	.	.	.	.	.	.	.	.	.	G	18.20	3.570696	0.65765	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72051	-0.62;-0.62;-0.62	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92087	0.7492	H	0.99752	4.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95672	0.8724	10	0.87932	D	0	.	18.8298	0.92133	0.0:0.0:1.0:0.0	.	371;896	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	C	896;331;728	ENSP00000345629:R896C;ENSP00000352093:R331C;ENSP00000428356:R728C	ENSP00000345629:R896C	R	-	1	0	MAP3K15	19302603	1.000000	0.71417	0.238000	0.24106	0.532000	0.34746	4.772000	0.62324	2.479000	0.83701	0.600000	0.82982	CGT		0.537	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_001001671		X:19392682
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
TCP10	6953	broad.mit.edu	37	6	167789546	167789546	+	Missense_Mutation	SNP	C	C	T	rs577395533		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:167789546C>T	ENST00000397829.4	-	6	763	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	TCP10_ENST00000366827.2_Missense_Mutation_p.R199Q	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	226						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TTGCGGACTTCGGGAAGATGG	0.612													c|||	0	0.0	0.0	0.0	5008	,	,		20395	0.0		0.0	False		,,,				2504	0.0					ENST00000366827.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(595-597)cGa>cAa		t-complex 10							39.0	41.0	41.0					6																	167789546		1967	4170	6137	SO:0001583	missense	6953					cytosol		g.chr6:167789546C>T	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.596G>A	6.37:g.167789546C>T	ENSP00000380929:p.Arg199Gln	True	False		Somatic	0				TCP10_ENST00000397829.4_Missense_Mutation_p.R199Q	p.R199Q			WXS	Illumina HiSeq	Phase_I	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	6	807	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	226					Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	c.596G>A	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417194	0.25552	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.12361	2.69;2.69	1.65	-1.26	0.09376	.	.	.	.	.	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	D;B	0.64830	0.994;0.185	P;B	0.62382	0.901;0.006	T	0.17623	-1.0363	9	0.72032	D	0.01	.	4.5266	0.11985	0.0:0.4475:0.0:0.5525	.	226;226	Q12799;Q12799-2	TCP10_HUMAN;.	Q	199	ENSP00000355792:R199Q;ENSP00000380929:R199Q	ENSP00000355792:R199Q	R	-	2	0	TCP10	167709536	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-2.900000	0.00704	-0.317000	0.08677	0.306000	0.20318	CGA		0.612	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	0	NM_004610		6:167789546
GLRX	2745	broad.mit.edu	37	5	95152244	95152244	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr5:95152244C>T	ENST00000379979.4	-	2	345	c.294G>A	c.(292-294)cgG>cgA	p.R98R	GLRX_ENST00000505427.1_Silent_p.R98R|GLRX_ENST00000512469.2_Silent_p.R98R|GLRX_ENST00000507605.1_5'UTR|GLRX_ENST00000508780.1_Silent_p.R98R|GLRX_ENST00000237858.6_Silent_p.R98R	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	98	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of membrane potential (GO:0045838)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein deglutathionylation (GO:0080058)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|glutathione oxidoreductase activity (GO:0097573)|protein N-terminus binding (GO:0047485)			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TCTGCTTTAGCCGCGTCAGCA	0.507																																						ENST00000379979.4		NA																	0				endometrium(3)|large_intestine(1)|lung(1)	5						c.(292-294)cgG>cgA		glutaredoxin (thioltransferase)	Glutathione(DB00143)						80.0	75.0	77.0					5																	95152244		2203	4300	6503	SO:0001819	synonymous_variant	2745				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding	g.chr5:95152244C>T		CCDS4078.1	5q14	2008-02-05			ENSG00000173221	ENSG00000173221			4330	protein-coding gene	gene with protein product		600443				8838810	Standard	NM_002064		Approved	GRX, GRX1	uc021ybo.1	P35754	OTTHUMG00000121167	ENST00000379979.4:c.294G>A	5.37:g.95152244C>T		False	False		Somatic	0				GLRX_ENST00000508780.1_Silent_p.R98R|GLRX_ENST00000505427.1_Silent_p.R98R|GLRX_ENST00000507605.1_5'UTR|GLRX_ENST00000512469.2_Silent_p.R98R|GLRX_ENST00000237858.6_Silent_p.R98R	p.R98R	NM_002064.2	NP_002055.1	WXS	Illumina HiSeq	Phase_I	P35754	GLRX1_HUMAN		all cancers(79;2.62e-16)	2	345	-		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	98			Glutaredoxin.		B2R4L2|Q3KQS1|Q6ICT1	Silent	SNP	ENST00000379979.4	37	c.294G>A	CCDS4078.1																																																																																				0.507	GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370267.1	0	NM_002064		5:95152244
VKORC1	79001	broad.mit.edu	37	16	31102595	31102595	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:31102595C>A	ENST00000394975.2	-	3	579	c.352G>T	c.(352-354)Gtc>Ttc	p.V118F	VKORC1_ENST00000319788.7_Missense_Mutation_p.C145F|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000354895.4_Missense_Mutation_p.C81F|PRSS53_ENST00000280606.6_5'Flank|VKORC1_ENST00000498155.1_Missense_Mutation_p.C150F|VKORC1_ENST00000394971.3_Missense_Mutation_p.C149F|VKORC1_ENST00000300851.6_Missense_Mutation_p.C138F	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	118					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCCAGGTAGACAGAACCAGCG	0.557																																						ENST00000319788.7		NA																	0				lung(3)|urinary_tract(1)	4						c.(433-435)tGt>tTt		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						92.0	80.0	84.0					16																	31102595		2197	4300	6497	SO:0001583	missense	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31102595C>A		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.352G>T	16.37:g.31102595C>A	ENSP00000378426:p.Val118Phe	False	False		Somatic	0				VKORC1_ENST00000354895.4_Missense_Mutation_p.C81F|VKORC1_ENST00000498155.1_Missense_Mutation_p.C150F|VKORC1_ENST00000300851.6_Missense_Mutation_p.C138F|VKORC1_ENST00000394971.3_Missense_Mutation_p.C149F|VKORC1_ENST00000394975.2_Missense_Mutation_p.V118F|RP11-196G11.1_ENST00000529564.1_Intron	p.C145F			WXS	Illumina HiSeq	Phase_I	Q9BQB6	VKOR1_HUMAN			4	644	-			0					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	c.434G>T	CCDS10703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.16|16.16	3.045854|3.045854	0.55110|0.55110	.|.	.|.	ENSG00000167397|ENSG00000167397	ENST00000300851;ENST00000319788;ENST00000354895;ENST00000394971;ENST00000498155|ENST00000394975	D;D;D|D	0.98120|0.98264	-4.39;-4.73;-4.09|-4.83	5.92|5.92	-3.16|-3.16	0.05217|0.05217	.|Vitamin K epoxide reductase (2);	.|0.619698	.|0.14857	.|N	.|0.294303	D|D	0.95204|0.95204	0.8445|0.8445	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B;B|B	0.30824|0.16603	0.296;0.128|0.018	B;B|B	0.29785|0.22152	0.107;0.035|0.038	T|T	0.82508|0.82508	-0.0422|-0.0422	8|8	0.87932|.	D|.	0|.	-15.2501|-15.2501	18.204|18.204	0.89848|0.89848	0.0:0.1877:0.7473:0.065|0.0:0.1877:0.7473:0.065	.|.	145;81|118	Q9BQB6-2;A6NIQ6|Q9BQB6	.;.|VKOR1_HUMAN	F|F	138;145;81;149;150|118	ENSP00000300851:C138F;ENSP00000326135:C145F;ENSP00000346969:C81F|ENSP00000378426:V118F	ENSP00000300851:C138F|.	C|V	-|-	2|1	0|0	VKORC1|VKORC1	31010096|31010096	0.565000|0.565000	0.26610|0.26610	0.676000|0.676000	0.29932|0.29932	0.976000|0.976000	0.68499|0.68499	0.092000|0.092000	0.15066|0.15066	-0.397000|-0.397000	0.07691|0.07691	-0.244000|-0.244000	0.11960|0.11960	TGT|GTC		0.557	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	0	NM_024006		16:31102595
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	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)	ENST00000311936.3	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		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""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)	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						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	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	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	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	226	-	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)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	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	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	KRAS	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		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
DOCK8	81704	broad.mit.edu	37	9	428461	428461	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr9:428461C>G	ENST00000453981.1	+	35	4550	c.4438C>G	c.(4438-4440)Cac>Gac	p.H1480D	DOCK8_ENST00000382329.1_Missense_Mutation_p.H947D|DOCK8_ENST00000469391.1_Missense_Mutation_p.H1380D|DOCK8_ENST00000432829.2_Missense_Mutation_p.H1412D			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1480					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)		CTACCTGACTCACTGCTTTGC	0.483																																						ENST00000432829.2		NA																	0				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						c.(4234-4236)Cac>Gac		dedicator of cytokinesis 8							158.0	126.0	137.0					9																	428461		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:428461C>G	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.4438C>G	9.37:g.428461C>G	ENSP00000408464:p.His1480Asp	False	False		Somatic	0				DOCK8_ENST00000469391.1_Missense_Mutation_p.H1380D|DOCK8_ENST00000382329.1_Missense_Mutation_p.H947D|DOCK8_ENST00000453981.1_Missense_Mutation_p.H1480D	p.H1412D	NM_203447.3	NP_982272.2	WXS	Illumina HiSeq	Phase_I	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	35	4550	+		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)	1480			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.4234C>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	32	5.175582	0.94807	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	M	0.89904	3.07	0.80722	D	1	D;D;D	0.58970	0.984;0.984;0.967	P;P;P	0.59221	0.805;0.854;0.808	D	0.85234	0.1034	10	0.72032	D	0.01	.	19.713	0.96103	0.0:1.0:0.0:0.0	.	1380;947;1480	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	D	1480;1448;1412;1380;947	ENSP00000408464:H1480D;ENSP00000394888:H1412D;ENSP00000419438:H1380D;ENSP00000371766:H947D	ENSP00000287364:H1448D	H	+	1	0	DOCK8	418461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.648000	0.89879	0.650000	0.86243	CAC		0.483	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	0	XM_036307		9:428461
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:7578235T>A	ENST00000269305.4	-	6	803	c.614A>T	c.(613-615)tAt>tTt	p.Y205F	TP53_ENST00000359597.4_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F|TP53_ENST00000445888.2_Missense_Mutation_p.Y205F|TP53_ENST00000420246.2_Missense_Mutation_p.Y205F|TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000574684.1_Intron	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(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						c.(613-615)tAt>tTt	Other conserved DNA damage response genes	tumor protein p53							136.0	121.0	126.0					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578235T>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.614A>T	17.37:g.7578235T>A	ENSP00000269305:p.Tyr205Phe	True	False	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)	Somatic	0				TP53_ENST00000269305.4_Missense_Mutation_p.Y205F|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F|TP53_ENST00000445888.2_Missense_Mutation_p.Y205F|TP53_ENST00000359597.4_Missense_Mutation_p.Y205F	p.Y205F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	746	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	37	c.614A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966153	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	4.33	0.51752	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	0.99837	0.9926	M	0.88906	2.99	0.54753	D	0.999982	D;D;D;D;D;D;D	0.69078	0.962;0.996;0.99;0.996;0.995;0.986;0.997	D;D;D;D;D;D;D	0.76071	0.946;0.984;0.966;0.979;0.987;0.979;0.969	D	0.97337	0.9954	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205F;ENSP00000352610:Y205F;ENSP00000269305:Y205F;ENSP00000398846:Y205F;ENSP00000391127:Y205F;ENSP00000391478:Y205F;ENSP00000425104:Y73F;ENSP00000423862:Y112F	ENSP00000269305:Y205F	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578235
CRKL	1399	broad.mit.edu	37	22	21272254	21272254	+	Missense_Mutation	SNP	G	G	A	rs567876179		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr22:21272254G>A	ENST00000354336.3	+	1	541	c.32G>A	c.(31-33)cGc>cAc	p.R11H		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	11					activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCTCGGACCGCTCCGCCTGG	0.692																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14						c.(31-33)cGc>cAc		v-crk avian sarcoma virus CT10 oncogene homolog-like							28.0	29.0	28.0					22																	21272254		2202	4299	6501	SO:0001583	missense	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21272254G>A		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.32G>A	22.37:g.21272254G>A	ENSP00000346300:p.Arg11His	False	False		Somatic	0					p.R11H	NM_005207.3	NP_005198.1	WXS	Illumina HiSeq	Phase_I	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		1	541	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	11					A8KA44|D3DX35	Missense_Mutation	SNP	ENST00000354336.3	37	c.32G>A	CCDS13785.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711248	0.96821	.	.	ENSG00000099942	ENST00000354336	T	0.69806	-0.43	5.27	5.27	0.74061	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.76666	0.4019	L	0.46885	1.475	0.80722	D	1	D	0.61697	0.99	D	0.69307	0.963	T	0.77579	-0.2535	10	0.59425	D	0.04	.	16.742	0.85462	0.0:0.0:1.0:0.0	.	11	P46109	CRKL_HUMAN	H	11	ENSP00000346300:R11H	ENSP00000346300:R11H	R	+	2	0	CRKL	19602254	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.444000	0.80532	2.627000	0.88993	0.650000	0.86243	CGC		0.692	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	0	NM_005207		22:21272254
ZNF286B	729288	broad.mit.edu	37	17	18565373	18565373	+	Silent	SNP	A	A	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:18565373A>G	ENST00000545289.1	-	5	1696	c.1446T>C	c.(1444-1446)ctT>ctC	p.L482L	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						GATGTTGAATAAGAGCTGATG	0.388																																						ENST00000545289.1		NA																	0				endometrium(1)|lung(1)	2						c.(1444-1446)ctT>ctC		zinc finger protein 286B							164.0	151.0	155.0					17																	18565373		692	1591	2283	SO:0001819	synonymous_variant	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565373A>G		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1446T>C	17.37:g.18565373A>G		False	False		Somatic	0				ZNF286B_ENST00000285274.5_3'UTR	p.L482L	NM_001145045.1	NP_001138517.1	WXS	Illumina HiSeq	Phase_I	P0CG31	Z286B_HUMAN			5	1696	-			482						Silent	SNP	ENST00000545289.1	37	c.1446T>C	CCDS58523.1																																																																																				0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	XM_001723047		17:18565373
PCK2	5106	broad.mit.edu	37	14	24569250	24569250	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr14:24569250C>T	ENST00000216780.4	+	7	1330	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	PCK2_ENST00000545054.2_Silent_p.A220A|PCK2_ENST00000561286.1_Silent_p.A220A|PCK2_ENST00000559250.1_Silent_p.A366A|PCK2_ENST00000558096.1_Silent_p.A220A|PCK2_ENST00000396973.4_Silent_p.A354A|NRL_ENST00000561028.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	354					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTGGGGTTGCCCCTGGTACCT	0.502																																						ENST00000545054.2		NA																	0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(658-660)gcC>gcT		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							110.0	115.0	113.0					14																	24569250		2203	4300	6503	SO:0001819	synonymous_variant	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24569250C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1062C>T	14.37:g.24569250C>T		True	False		Somatic	0				PCK2_ENST00000559250.1_Silent_p.A366A|PCK2_ENST00000216780.4_Silent_p.A354A|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.A354A|PCK2_ENST00000561286.1_Silent_p.A220A|PCK2_ENST00000558096.1_Silent_p.A220A	p.A220A			WXS	Illumina HiSeq	Phase_I	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	7	1578	+			354					O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	c.660C>T	CCDS9609.1																																																																																				0.502	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	0	NM_001018073		14:24569250
GPR174	84636	broad.mit.edu	37	X	78426854	78426854	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:78426854T>A	ENST00000276077.1	+	1	386	c.350T>A	c.(349-351)tTt>tAt	p.F117Y		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTGCGACGATTTTGGTTTCTC	0.468										HNSCC(63;0.18)																												ENST00000276077.1		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(349-351)tTt>tAt		G protein-coupled receptor 174							216.0	191.0	200.0					X																	78426854		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426854T>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.350T>A	X.37:g.78426854T>A	ENSP00000276077:p.Phe117Tyr	True	False	HNSCC(63;0.18)	Somatic	0					p.F117Y	NM_032553.1	NP_115942.1	WXS	Illumina HiSeq	Phase_I	Q9BXC1	GP174_HUMAN			1	386	+			117					Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.350T>A	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	t	5.465	0.270931	0.10349	.	.	ENSG00000147138	ENST00000276077	T	0.41065	1.01	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.056736	0.64402	D	0.000001	T	0.22126	0.0533	N	0.16567	0.415	0.33746	D	0.620086	B	0.09022	0.002	B	0.18871	0.023	T	0.23833	-1.0177	10	0.02654	T	1	.	8.9269	0.35646	0.1684:0.0:0.0:0.8315	.	117	Q9BXC1	GP174_HUMAN	Y	117	ENSP00000276077:F117Y	ENSP00000276077:F117Y	F	+	2	0	GPR174	78313510	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.473000	0.53122	1.697000	0.51169	0.433000	0.28618	TTT		0.468	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	0	NM_032553		X:78426854
CDKN2AIP	55602	broad.mit.edu	37	4	184368445	184368445	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:184368445C>T	ENST00000504169.1	+	3	1815	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	536	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGTTATTTCTCAAGAAAAAGG	0.383																																						ENST00000504169.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(1606-1608)ctC>ctT		CDKN2A interacting protein							77.0	84.0	81.0					4																	184368445		2203	4300	6503	SO:0001819	synonymous_variant	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184368445C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1608C>T	4.37:g.184368445C>T		False	False		Somatic	0				CDKN2AIP_ENST00000302350.4_3'UTR	p.L536L	NM_017632.2	NP_060102.1	WXS	Illumina HiSeq	Phase_I	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	1815	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	536			DRBM.		Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	37	c.1608C>T	CCDS34110.1																																																																																				0.383	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	0	NM_017632		4:184368445
PSG4	5672	broad.mit.edu	37	19	43702149	43702149	+	Splice_Site	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr19:43702149G>A	ENST00000405312.3	-	3	946	c.709C>T	c.(709-711)Cca>Tca	p.P237S	PSG4_ENST00000244295.9_Splice_Site_p.H237Y|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	237	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.P237T(1)|p.H237N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGATACTCACGGAGGAGATTC	0.527																																						ENST00000405312.3		NA																	2	Substitution - Missense(2)	p.P237T(1)|p.H237N(1)	lung(2)	central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(709-711)Cca>Tca		pregnancy specific beta-1-glycoprotein 4							40.0	48.0	45.0					19																	43702149		2110	4239	6349	SO:0001630	splice_region_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43702149G>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.709+1C>T	19.37:g.43702149G>A		False	False		Somatic	0				PSG4_ENST00000244295.9_Splice_Site_p.H237Y|PSG4_ENST00000433626.2_Intron	p.P237S	NM_002780.3	NP_002771.2	WXS	Illumina HiSeq	Phase_I	Q00888	PSG4_HUMAN			3	946	-		Prostate(69;0.00682)	237			Ig-like C2-type 2.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Splice_Site	SNP	ENST00000405312.3	37	c.709C>T	CCDS46093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	4.459|4.459	0.085043|0.085043	0.08583|0.08583	.|.	.|.	ENSG00000243137|ENSG00000243137	ENST00000244295|ENST00000405312	T|T	0.34667|0.59772	1.35|0.24	1.96|1.96	-0.726|-0.726	0.11170|0.11170	.|Immunoglobulin-like (1);	.|.	.|.	.|.	.|.	T|T	0.44973|0.44973	0.1319|0.1319	L|L	0.49126|0.49126	1.545|1.545	0.09310|0.09310	N|N	1|1	B|B	0.06786|0.18310	0.001|0.027	B|B	0.08055|0.19946	0.003|0.027	T|T	0.32188|0.32188	-0.9916|-0.9916	9|9	0.02654|0.31617	T|T	1|0.26	.|.	4.4957|4.4957	0.11835|0.11835	0.6207:0.0:0.3793:0.0|0.6207:0.0:0.3793:0.0	.|.	237|237	Q00888-2|Q00888	.|PSG4_HUMAN	Y|S	237|237	ENSP00000244295:H237Y|ENSP00000384770:P237S	ENSP00000244295:H237Y|ENSP00000384770:P237S	H|P	-|-	1|1	0|0	PSG4|PSG4	48393989|48393989	0.003000|0.003000	0.15002|0.15002	0.008000|0.008000	0.14137|0.14137	0.006000|0.006000	0.05464|0.05464	-1.087000|-1.087000	0.03383|0.03383	-0.365000|-0.365000	0.08076|0.08076	-1.218000|-1.218000	0.01608|0.01608	CAT|CCA		0.527	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	0	NM_213633	Missense_Mutation	19:43702149
CDK6	1021	broad.mit.edu	37	7	92462589	92462589	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:92462589C>T	ENST00000265734.4	-	2	460	c.49G>A	c.(49-51)Gcg>Acg	p.A17T	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Missense_Mutation_p.A17T	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	17	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCGATCTCCGCCACGCATTCG	0.721			T	MLLT10	ALL																																	ENST00000265734.4		NA		Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(49-51)Gcg>Acg		cyclin-dependent kinase 6							23.0	16.0	19.0					7																	92462589		2195	4287	6482	SO:0001583	missense	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92462589C>T		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.49G>A	7.37:g.92462589C>T	ENSP00000265734:p.Ala17Thr	False	False		Somatic	0				CDK6_ENST00000424848.2_Missense_Mutation_p.A17T	p.A17T	NM_001259.6	NP_001250.1	WXS	Illumina HiSeq	Phase_I	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		2	460	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		17			Protein kinase.		A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	c.49G>A	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133124	0.94517	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.43294	0.95;0.95	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	N	0.21373	0.66	0.80722	D	1	D	0.60575	0.988	P	0.53490	0.727	T	0.49476	-0.8936	10	0.87932	D	0	-2.5446	19.3835	0.94546	0.0:1.0:0.0:0.0	.	17	Q00534	CDK6_HUMAN	T	17	ENSP00000265734:A17T;ENSP00000397087:A17T	ENSP00000265734:A17T	A	-	1	0	CDK6	92300525	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.686000	0.84128	2.586000	0.87340	0.557000	0.71058	GCG		0.721	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2	0			7:92462589
CCDC88B	283234	broad.mit.edu	37	11	64116904	64116904	+	Silent	SNP	G	G	C			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:64116904G>C	ENST00000356786.5	+	15	2762	c.2718G>C	c.(2716-2718)ctG>ctC	p.L906L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.L58L	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	906						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGAATTTCTGCGAGAAAAGG	0.652																																						ENST00000356786.5		NA																	0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2716-2718)ctG>ctC		coiled-coil domain containing 88B							19.0	24.0	22.0					11																	64116904		2200	4296	6496	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64116904G>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2718G>C	11.37:g.64116904G>C		False	False		Somatic	0				CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.L58L	p.L906L	NM_032251.5	NP_115627.6	WXS	Illumina HiSeq	Phase_I	A6NC98	CC88B_HUMAN			15	2762	+			906					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.2718G>C	CCDS8072.2																																																																																				0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	0	NM_032251		11:64116904
