#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
RPL22	6146	broad.mit.edu	37	1	6257817	6257818	+	Splice_Site	INS	-	-	ACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:6257817_6257818insACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT	ENST00000234875.4	-	2	51		c.e2-1		RPL22_ENST00000497965.1_Splice_Site|RPL22_ENST00000484532.1_De_novo_Start_OutOfFrame	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22						alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGCTTTTTCTAAGAAAATAC	0.386			T	RUNX1	"""AML, CML"""																																	ENST00000484532.1		NA		Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		"""AML, CML"""		0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6								ribosomal protein L22																																				SO:0001630	splice_region_variant	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6257817_6257818insACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.13-1->AGAATTATTCCGCCCTTTCTAACTCCGCTGCCGCCATGGCTCCTGT	1.37:g.6257817_6257818insACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT		False	False		Somatic	0				RPL22_ENST00000234875.4_Splice_Site|RPL22_ENST00000497965.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	0	0	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	NA					B2R495|Q6IBD1	Translation_Start_Site	INS	ENST00000234875.4	37		CCDS58.1																																																																																				0.386	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	0	NM_000983	Intron	1:6257817
CASQ2	845	broad.mit.edu	37	1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-	rs7413162|rs368007942|rs397516641	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
ZBTB21	49854	broad.mit.edu	37	21	43411549	43411551	+	In_Frame_Del	DEL	CCT	CCT	-	rs377515144|rs140397626|rs199778808	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr21:43411549_43411551delCCT	ENST00000310826.5	-	3	2837_2839	c.2654_2656delAGG	c.(2653-2658)gaggct>gct	p.E885del	ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398505.3_In_Frame_Del_p.E684del|ZBTB21_ENST00000398499.1_In_Frame_Del_p.E885del|ZBTB21_ENST00000398511.3_In_Frame_Del_p.E885del	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	885					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.E885A(2)									TCTTCTTCAGCCTCCTCCACAGG	0.532														272	0.0543131	0.1044	0.0677	5008	,	,		17745	0.0		0.0785	False		,,,				2504	0.0082					ENST00000398505.3		NA																	2	Substitution - Missense(2)	p.E885A(2)	ovary(2)		NA						c.(2050-2055)gaggct>gct		zinc finger and BTB domain containing 21			,,	347,3917		10,327,1795					,,	5.0	0.4		dbSNP_134	65	605,7649		27,551,3549	no	coding,coding,coding	ZNF295	NM_020727.4,NM_001098403.1,NM_001098402.1	,,	37,878,5344	A1A1,A1R,RR		7.3298,8.1379,7.605	,,	,,		952,11566				SO:0001651	inframe_deletion	49854							g.chr21:43411549_43411551delCCT	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2654_2656delAGG	21.37:g.43411552_43411554delCCT	ENSP00000308759:p.Glu885del	False	False		Somatic	2				ZBTB21_ENST00000398499.1_In_Frame_Del_p.E885del|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000310826.5_In_Frame_Del_p.E885del|ZBTB21_ENST00000398511.3_In_Frame_Del_p.E885del	p.E684del	NM_001098403.1	NP_001091873.1	WXS	Illumina HiSeq	Phase_I					4	2234_2236	-			NA					Q5R2W1|Q5R2W2|Q6P4R0	In_Frame_Del	DEL	ENST00000310826.5	37	c.2051_2053delAGG	CCDS13678.1																																																																																				0.532	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	0	NM_020727		21:43411549
MYO18B	84700	broad.mit.edu	37	22	26348272	26348274	+	In_Frame_Del	DEL	CAT	CAT	-	rs202126120		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CAT	CAT	-	-	CAT	CAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:26348272_26348274delCAT	ENST00000407587.2	+	38	6025_6027	c.5856_5858delCAT	c.(5854-5859)cgcatc>cgc	p.I1953del	MYO18B_ENST00000536101.1_In_Frame_Del_p.I1952del|MYO18B_ENST00000335473.7_In_Frame_Del_p.I1952del			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1952	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCAGATGCGCATCGAGTACCTG	0.547																																						ENST00000407587.2		NA																	0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5854-5859)cgcatc>cgc		myosin XVIIIB																																				SO:0001651	inframe_deletion	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26348272_26348274delCAT	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5856_5858delCAT	22.37:g.26348272_26348274delCAT	ENSP00000386096:p.Ile1953del	False	False		Somatic	1				MYO18B_ENST00000536101.1_In_Frame_Del_p.I1952del|MYO18B_ENST00000335473.7_In_Frame_Del_p.I1952del	p.I1953del			WXS	Illumina HiSeq	Phase_I	Q8IUG5	MY18B_HUMAN			38	6025_6027	+			1952			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	In_Frame_Del	DEL	ENST00000407587.2	37	c.5856_5858delCAT																																																																																					0.547	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	NM_032608		22:26348272
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:50350672_50350674delTCT	ENST00000289292.7	-	6	3751_3753	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1040_1041EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557																																						ENST00000460112.3		NA																	1	Substitution - coding silent(1)	p.E1156E(1)	skin(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3118-3123)gaagag>gag		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350672_50350674delTCT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3468_3470delAGA	X.37:g.50350672_50350674delTCT	ENSP00000289292:p.Glu1158del	False	False		Somatic	1				SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E	p.1040_1041EE>E			WXS	Illumina HiSeq	Phase_I	Q9ULL8	SHRM4_HUMAN			5	3574_3576	-	Ovarian(276;0.236)		1156					A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3120_3122delAGA	CCDS35277.1																																																																																				0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	0	NM_020717		X:50350672
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T	rs570205705		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:12785492_12785493insT	ENST00000359318.5	+	4	787_788	c.582_583insT	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Ins_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455																																						ENST00000332530.3		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(373-375)tgtfs		arylacetamide deacetylase-like 3																																				SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785492_12785493insT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.583dupT	1.37:g.12785493_12785493dupT	ENSP00000352268:p.Cys195fs	False	False		Somatic	1				AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.C195fs	p.C125fs	NM_001103169.1	NP_001096639.1	WXS	Illumina HiSeq	Phase_I	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	598_599	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	195					B3KXR9|Q5VUY1	Frame_Shift_Ins	INS	ENST00000359318.5	37	c.372_373insT	CCDS41253.1																																																																																				0.455	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	0	NM_001103170		1:12785492
HSPE1	3336	broad.mit.edu	37	2	198367853	198367854	+	Splice_Site	INS	-	-	ATTATT			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:198367853_198367854insATTATT	ENST00000233893.5	+	3	701		c.e3+1		HSPD1_ENST00000345042.2_5'Flank|HSPE1_ENST00000409468.1_In_Frame_Ins_p.87_87V>DYL|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409729.1_Splice_Site|HSPE1_ENST00000465573.1_Splice_Site	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			AGATGACAAGGTGTGTAAACTT	0.342																																						ENST00000409729.1		NA																	0				lung(1)	1						c.e2+1		heat shock 10kDa protein 1																																				SO:0001630	splice_region_variant	3336							g.chr2:198367853_198367854insATTATT	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.258+1->ATTATT	2.37:g.198367853_198367854insATTATT		True	False		Somatic	0				HSPE1_ENST00000409468.1_In_Frame_Ins_p.87_87V>DYL|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_Splice_Site|HSPE1_ENST00000233893.5_Splice_Site				WXS	Illumina HiSeq	Phase_I			Epithelial(96;0.225)		2	390	+			NA					O95421|Q04984|Q53X54|Q9UDH0	Splice_Site	INS	ENST00000233893.5	37		CCDS2320.1																																																																																				0.342	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	0	NM_002157	Intron	2:198367853
ABI2	10152	broad.mit.edu	37	2	204267424	204267427	+	Frame_Shift_Del	DEL	ATGA	ATGA	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	ATGA	ATGA	-	-	ATGA	ATGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204267424_204267427delATGA	ENST00000422511.2	+	9	1091_1094	c.1060_1063delATGA	c.(1060-1065)atgaatfs	p.MN354fs	ABI2_ENST00000261016.6_Frame_Shift_Del_p.MN275fs|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261018.7_Frame_Shift_Del_p.MN173fs|ABI2_ENST00000261017.5_Frame_Shift_Del_p.MN320fs|ABI2_ENST00000424558.1_Frame_Shift_Del_p.MN381fs|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000430418.1_Frame_Shift_Del_p.MN332fs|ABI2_ENST00000295851.5_Frame_Shift_Del_p.MN387fs			Q9NYB9	ABI2_HUMAN	abl-interactor 2	387	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TCAGAATCAGATGAATGGAGGACC	0.407																																						ENST00000422511.2		NA																	0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(1060-1065)atgaatfs		abl-interactor 2																																				SO:0001589	frameshift_variant	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204267424_204267427delATGA	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1060_1063delATGA	2.37:g.204267424_204267427delATGA	ENSP00000396249:p.Met354fs	False	False		Somatic	1				ABI2_ENST00000261018.7_Frame_Shift_Del_p.MN173fs|ABI2_ENST00000295851.4_Frame_Shift_Del_p.MN387fs|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Frame_Shift_Del_p.MN332fs|ABI2_ENST00000261016.6_Frame_Shift_Del_p.MN275fs|ABI2_ENST00000424558.1_Frame_Shift_Del_p.MN381fs|ABI2_ENST00000261017.5_Frame_Shift_Del_p.MN320fs|RAPH1_ENST00000457812.1_Intron	p.MN354fs			WXS	Illumina HiSeq	Phase_I	Q9NYB9	ABI2_HUMAN			9	1091_1094	+			387			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Frame_Shift_Del	DEL	ENST00000422511.2	37	c.1060_1063delATGA																																																																																					0.407	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	0	NM_005759		2:204267424
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
DHX29	54505	broad.mit.edu	37	5	54579096	54579097	+	Frame_Shift_Ins	INS	-	-	GTCCC			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:54579096_54579097insGTCCC	ENST00000251636.5	-	11	2047_2048	c.1899_1900insGGGAC	c.(1897-1902)atctcafs	p.S634fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	634	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTAACTGCTGAGATTCTTCGGG	0.416																																						ENST00000251636.5		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(1897-1902)atctcafs		DEAH (Asp-Glu-Ala-His) box polypeptide 29																																				SO:0001589	frameshift_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54579096_54579097insGTCCC	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1899_1900insGGGAC	5.37:g.54579096_54579097insGTCCC	ENSP00000251636:p.Ser634fs	False	False		Somatic	0				RP11-506H20.1_ENST00000506435.1_RNA	p.S634fs	NM_019030.2	NP_061903.2	WXS	Illumina HiSeq	Phase_I	Q7Z478	DHX29_HUMAN			11	2047_2048	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	634			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Frame_Shift_Ins	INS	ENST00000251636.5	37	c.1899_1900insGGGAC	CCDS34158.1																																																																																				0.416	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	0	NM_019030		5:54579096
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
CSNK1G3	1456	broad.mit.edu	37	5	122911485	122911487	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:122911485_122911487delCTT	ENST00000361991.2	+	5	531_533	c.501_503delCTT	c.(499-504)aacttc>aac	p.F168del	CSNK1G3_ENST00000511130.2_In_Frame_Del_p.F55del|CSNK1G3_ENST00000360683.2_In_Frame_Del_p.F168del|CSNK1G3_ENST00000395411.1_In_Frame_Del_p.F168del|CSNK1G3_ENST00000521364.1_In_Frame_Del_p.F168del|CSNK1G3_ENST00000395412.1_In_Frame_Del_p.F168del|CSNK1G3_ENST00000510842.2_In_Frame_Del_p.F168del|CSNK1G3_ENST00000512718.3_In_Frame_Del_p.F93del|CSNK1G3_ENST00000345990.4_In_Frame_Del_p.F168del			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AACCTGAGAACTTCTTAATAGGA	0.335																																					Pancreas(187;2868 2964 4353 6297)	ENST00000360683.2		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(499-504)aacttc>aac		casein kinase 1, gamma 3																																				SO:0001651	inframe_deletion	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122911485_122911487delCTT	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.501_503delCTT	5.37:g.122911488_122911490delCTT	ENSP00000354942:p.Phe168del	False	False		Somatic	2				CSNK1G3_ENST00000512718.3_In_Frame_Del_p.F93del|CSNK1G3_ENST00000361991.2_In_Frame_Del_p.F168del|CSNK1G3_ENST00000510842.2_In_Frame_Del_p.F168del|CSNK1G3_ENST00000511130.2_In_Frame_Del_p.F55del|CSNK1G3_ENST00000395411.1_In_Frame_Del_p.F168del|CSNK1G3_ENST00000521364.1_In_Frame_Del_p.F168del|CSNK1G3_ENST00000345990.4_In_Frame_Del_p.F168del|CSNK1G3_ENST00000395412.1_In_Frame_Del_p.F168del	p.F168del			WXS	Illumina HiSeq	Phase_I	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	5	531_533	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	168			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	In_Frame_Del	DEL	ENST00000361991.2	37	c.501_503delCTT	CCDS4135.1																																																																																				0.335	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	0	NM_004384		5:122911485
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Intron	DEL	C	C	-	rs577355457|rs201441562|rs560850105|rs72613250|rs72331392	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:109850201delC	ENST00000424296.2	-	29	3710				AK9_ENST00000355283.1_Frame_Shift_Del_p.V295fs|AK9_ENST00000341338.6_Intron	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										aaaaaaaaaacaaaaCTACTT	0.413													|||unknown(HR)	663	0.132388	0.0333	0.1167	5008	,	,		17019	0.1974		0.0964	False		,,,				2504	0.2474					ENST00000355283.1		NA																	0					NA						c.(883-885)gttfs		adenylate kinase 9							40.0	27.0	32.0					6																	109850201		2117	3722	5839	SO:0001627	intron_variant	221264							g.chr6:109850201delC	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+12G>-	6.37:g.109850201delC		True	False		Somatic	1				AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron	p.V295fs			WXS	Illumina HiSeq	Phase_I					5	1129	-			NA					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	c.883delG	CCDS55048.1																																																																																				0.413	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001145128		6:109850201
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
LZTS1	11178	broad.mit.edu	37	8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	rs372940217|rs141716809|rs373668156|rs148039718	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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
PCDH12	51294	broad.mit.edu	37	5	141335640	141335640	+	Missense_Mutation	SNP	C	C	T	rs550140086		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:141335640C>T	ENST00000231484.3	-	1	2987	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	593					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGAGTCTCGATGGGCACC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18948	0.0		0.0	False		,,,				2504	0.001					ENST00000231484.3		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1777-1779)Gag>Aag		protocadherin 12							51.0	47.0	48.0					5																	141335640		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335640C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1777G>A	5.37:g.141335640C>T	ENSP00000231484:p.Glu593Lys	False	False		Somatic	0					p.E593K	NM_016580.2	NP_057664.1	WXS	Illumina HiSeq	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2987	-		all_hematologic(541;0.0999)	593					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1777G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681193	0.29872	.	.	ENSG00000113555	ENST00000231484	T	0.53423	0.62	5.38	5.38	0.77491	.	0.194702	0.44285	D	0.000471	T	0.37019	0.0988	L	0.54323	1.7	0.43430	D	0.995596	P	0.41710	0.76	B	0.22152	0.038	T	0.39292	-0.9621	10	0.44086	T	0.13	.	14.5119	0.67794	0.0:1.0:0.0:0.0	.	593	Q9NPG4	PCD12_HUMAN	K	593	ENSP00000231484:E593K	ENSP00000231484:E593K	E	-	1	0	PCDH12	141315824	1.000000	0.71417	0.755000	0.31263	0.059000	0.15707	5.396000	0.66297	2.802000	0.96397	0.655000	0.94253	GAG		0.597	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	0	NM_016580		5:141335640
NTNG2	84628	broad.mit.edu	37	9	135073821	135073821	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:135073821C>T	ENST00000393229.3	+	3	1458	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	NTNG2_ENST00000372179.3_Missense_Mutation_p.R228C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R228C|NTNG2_ENST00000360670.3_Missense_Mutation_p.R228C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	228	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCCCGACCTGCGCAACATGGA	0.667																																						ENST00000393229.3		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(682-684)Cgc>Tgc		netrin G2							55.0	53.0	54.0					9																	135073821		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073821C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.682C>T	9.37:g.135073821C>T	ENSP00000376921:p.Arg228Cys	False	False		Somatic	0				NTNG2_ENST00000372179.3_Missense_Mutation_p.R228C|NTNG2_ENST00000360670.3_Missense_Mutation_p.R228C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R228C	p.R228C	NM_032536.2	NP_115925.2	WXS	Illumina HiSeq	Phase_I	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1458	+			228			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.682C>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113959	0.77210	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.068253	0.64402	D	0.000020	T	0.77054	0.4074	L	0.57536	1.79	0.49915	D	0.999837	D	0.71674	0.998	P	0.52309	0.695	T	0.79227	-0.1890	10	0.62326	D	0.03	.	11.6166	0.51094	0.284:0.716:0.0:0.0	.	228	Q96CW9	NTNG2_HUMAN	C	228	ENSP00000376921:R228C;ENSP00000376920:R228C;ENSP00000353888:R228C;ENSP00000361252:R228C	ENSP00000353888:R228C	R	+	1	0	NTNG2	134063642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.164000	0.50770	2.417000	0.82017	0.561000	0.74099	CGC		0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	0	NM_032536		9:135073821
NBEAL1	65065	broad.mit.edu	37	2	204009874	204009874	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204009874C>T	ENST00000449802.1	+	32	5541	c.5208C>T	c.(5206-5208)ctC>ctT	p.L1736L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1736										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGCAAGCTCAAATTTCAGG	0.333																																						ENST00000449802.1		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5206-5208)ctC>ctT		neurobeachin-like 1							100.0	94.0	96.0					2																	204009874		1817	4072	5889	SO:0001819	synonymous_variant	65065						binding	g.chr2:204009874C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5208C>T	2.37:g.204009874C>T		True	False		Somatic	0					p.L1736L	NM_001114132.1	NP_001107604.1	WXS	Illumina HiSeq	Phase_I	Q6ZS30	NBEL1_HUMAN			32	5541	+			1736					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	c.5208C>T	CCDS46495.1																																																																																				0.333	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4	0			2:204009874
RARRES3	5920	broad.mit.edu	37	11	63307030	63307030	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:63307030C>T	ENST00000255688.3	+	2	100	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RARRES3_ENST00000439013.2_Missense_Mutation_p.R18C|RARRES3_ENST00000354445.2_Missense_Mutation_p.R18C|RARRES3_ENST00000537871.1_Intron	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	18					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGAGATTTTCCGCCTTGGCTA	0.483																																						ENST00000439013.2		NA																	0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(52-54)Cgc>Tgc		retinoic acid receptor responder (tazarotene induced) 3							114.0	123.0	120.0					11																	63307030		2197	4298	6495	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63307030C>T		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.52C>T	11.37:g.63307030C>T	ENSP00000255688:p.Arg18Cys	False	False		Somatic	0				RARRES3_ENST00000255688.3_Missense_Mutation_p.R18C|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.R18C	p.R18C			WXS	Illumina HiSeq	Phase_I	Q9UL19	TIG3_HUMAN			2	105	+			18					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.52C>T	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768386	0.49680	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.46063	0.88;0.88;0.88	4.35	2.47	0.30058	.	0.263285	0.27636	N	0.018488	T	0.65523	0.2699	M	0.90369	3.11	0.09310	N	0.999993	D	0.89917	1.0	D	0.73380	0.98	T	0.57388	-0.7820	10	0.87932	D	0	.	8.3897	0.32520	0.0:0.8054:0.0:0.1946	.	18	Q9UL19	TIG3_HUMAN	C	18	ENSP00000402943:R18C;ENSP00000255688:R18C;ENSP00000346431:R18C	ENSP00000255688:R18C	R	+	1	0	RARRES3	63063606	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	1.900000	0.39828	0.591000	0.29711	-0.251000	0.11542	CGC		0.483	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	0			11:63307030
EYS	346007	broad.mit.edu	37	6	66063415	66063415	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:66063415G>C	ENST00000370621.3	-	9	1921	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	EYS_ENST00000370616.2_Missense_Mutation_p.F465L|EYS_ENST00000393380.2_Missense_Mutation_p.F465L|EYS_ENST00000342421.5_Missense_Mutation_p.F465L|EYS_ENST00000503581.1_Missense_Mutation_p.F465L|EYS_ENST00000370618.3_Missense_Mutation_p.F465L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATACCATGGAAGGTGACTC	0.373																																						ENST00000503581.1		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1393-1395)ttC>ttG		eyes shut homolog (Drosophila)							116.0	106.0	110.0					6																	66063415		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063415G>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1395C>G	6.37:g.66063415G>C	ENSP00000359655:p.Phe465Leu	False	False		Somatic	0				EYS_ENST00000342421.5_Missense_Mutation_p.F465L|EYS_ENST00000370621.3_Missense_Mutation_p.F465L|EYS_ENST00000370618.3_Missense_Mutation_p.F465L|EYS_ENST00000370616.2_Missense_Mutation_p.F465L|EYS_ENST00000393380.2_Missense_Mutation_p.F465L	p.F465L	NM_001142800.1	NP_001136272.1	WXS	Illumina HiSeq	Phase_I	Q5T1H1	EYS_HUMAN			9	1932	-			465					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1395C>G		.	.	.	.	.	.	.	.	.	.	g	7.119	0.577517	0.13686	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	4.14	0.278	0.15673	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.004;0.003;0.003	T	0.48875	-0.8996	9	0.11794	T	0.64	.	6.6386	0.22897	0.4292:0.0:0.5708:0.0	.	465;465;465	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	465	ENSP00000424243:F465L;ENSP00000359655:F465L;ENSP00000359650:F465L;ENSP00000377042:F465L;ENSP00000341818:F465L;ENSP00000359652:F465L	ENSP00000341818:F465L	F	-	3	2	EYS	66120136	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.195000	0.09546	-0.034000	0.13713	0.591000	0.81541	TTC		0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	0	XM_294050		6:66063415
COL5A3	50509	broad.mit.edu	37	19	10097024	10097024	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:10097024G>A	ENST00000264828.3	-	30	2404	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	773	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCCTCCTCGCCAGCCTGCC	0.612																																						ENST00000264828.3		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2317-2319)ggC>ggT		collagen, type V, alpha 3							19.0	24.0	23.0					19																	10097024		2198	4297	6495	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10097024G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2319C>T	19.37:g.10097024G>A		False	False		Somatic	0					p.G773G	NM_015719.3	NP_056534.2	WXS	Illumina HiSeq	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		30	2404	-			773			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.2319C>T	CCDS12222.1																																																																																				0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	0	NM_015719		19:10097024
GRAMD1A	57655	broad.mit.edu	37	19	35500042	35500042	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:35500042C>T	ENST00000317991.5	+	2	220	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R97W|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000598073.1_3'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	10						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACTCTGGCCGGAGCACGCC	0.622																																						ENST00000599564.1		NA																	0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(289-291)Cgg>Tgg		GRAM domain containing 1A							48.0	59.0	55.0					19																	35500042		1986	4161	6147	SO:0001583	missense	57655					integral to membrane		g.chr19:35500042C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.28C>T	19.37:g.35500042C>T	ENSP00000441032:p.Arg10Trp	False	False		Somatic	0				GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R10W|GRAMD1A_ENST00000598073.1_3'UTR	p.R97W			WXS	Illumina HiSeq	Phase_I	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	360	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		10			GRAM.		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.289C>T	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	c	15.81	2.944466	0.53079	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.34859	1.36;1.34	4.83	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.43122	0.1233	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.977;0.948;0.977;0.992	T	0.45934	-0.9227	10	0.87932	D	0	.	12.3312	0.55041	0.1697:0.8302:0.0:0.0	.	10;10;10;97	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	W	97;10;10	ENSP00000441032:R10W;ENSP00000439267:R10W	ENSP00000441032:R10W	R	+	1	2	GRAMD1A	40191882	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.429000	0.44758	1.250000	0.43966	0.561000	0.74099	CGG		0.622	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	0	NM_020895		19:35500042
TPO	7173	broad.mit.edu	37	2	1520713	1520713	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:1520713C>T	ENST00000345913.4	+	15	2668	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	TPO_ENST00000382198.1_Silent_p.I686I|TPO_ENST00000349624.3_Silent_p.I686I|TPO_ENST00000346956.3_Silent_p.I815I|TPO_ENST00000337415.3_Silent_p.I859I|TPO_ENST00000329066.4_Silent_p.I859I|TPO_ENST00000382201.3_Silent_p.I802I|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	859					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTGCTGATCGGAGGCTTCG	0.547																																						ENST00000345913.4		NA																	0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2575-2577)atC>atT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						75.0	72.0	73.0					2																	1520713		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1520713C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2577C>T	2.37:g.1520713C>T		False	False		Somatic	0				TPO_ENST00000349624.3_Silent_p.I686I|TPO_ENST00000329066.4_Silent_p.I859I|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Silent_p.I815I|TPO_ENST00000382198.1_Silent_p.I686I|TPO_ENST00000337415.3_Silent_p.I859I|TPO_ENST00000382201.3_Silent_p.I802I	p.I859I	NM_000547.5	NP_000538.3	WXS	Illumina HiSeq	Phase_I	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	15	2668	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	859					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.2577C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	0.144	-1.099164	0.01843	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.52	-5.29	0.02747	.	.	.	.	.	T	0.26702	0.0653	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-27.4266	6.7432	0.23447	0.0:0.3461:0.3029:0.3509	.	.	.	.	L	334	.	.	S	+	2	0	TPO	1499720	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.732000	0.00804	-1.770000	0.01295	-0.904000	0.02843	TCG		0.547	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	NM_000547		2:1520713
FRMPD2	143162	broad.mit.edu	37	10	49457187	49457187	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:49457187G>A	ENST00000374201.3	-	3	488	c.186C>T	c.(184-186)gcC>gcT	p.A62A	FRMPD2_ENST00000407470.4_Silent_p.A53A|FRMPD2_ENST00000305531.3_Silent_p.A60A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	62	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAAGCAGGGCTGACCAGG	0.552																																						ENST00000374201.3		NA																	0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(184-186)gcC>gcT		FERM and PDZ domain containing 2							53.0	54.0	54.0					10																	49457187		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49457187G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.186C>T	10.37:g.49457187G>A		True	False		Somatic	0				FRMPD2_ENST00000305531.3_Silent_p.A60A|FRMPD2_ENST00000407470.4_Silent_p.A53A	p.A62A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	WXS	Illumina HiSeq	Phase_I	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	3	488	-			62			KIND.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.186C>T	CCDS31195.1																																																																																				0.552	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	0	NM_152428		10:49457187
HEATR3	55027	broad.mit.edu	37	16	50112735	50112735	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:50112735G>A	ENST00000299192.7	+	7	1038	c.847G>A	c.(847-849)Gtt>Att	p.V283I	HEATR3_ENST00000285767.4_Missense_Mutation_p.V197I	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	283										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTATCTGAAGTTTTGGGAAT	0.378																																						ENST00000299192.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(847-849)Gtt>Att		HEAT repeat containing 3							77.0	76.0	76.0					16																	50112735		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50112735G>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.847G>A	16.37:g.50112735G>A	ENSP00000299192:p.Val283Ile	True	False		Somatic	0				HEATR3_ENST00000285767.4_Missense_Mutation_p.V197I	p.V283I	NM_182922.2	NP_891552.1	WXS	Illumina HiSeq	Phase_I	Q7Z4Q2	HEAT3_HUMAN			7	1038	+			283					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.847G>A	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918750	0.73098	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.31769	1.48;1.48	5.74	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.492308	0.24010	N	0.042387	T	0.34919	0.0914	M	0.64997	1.995	0.25653	N	0.986075	P;P	0.50272	0.933;0.501	P;B	0.47251	0.542;0.039	T	0.20140	-1.0284	10	0.29301	T	0.29	.	9.7486	0.40462	0.0742:0.0:0.7542:0.1716	.	197;283	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	I	197;283	ENSP00000285767:V197I;ENSP00000299192:V283I	ENSP00000285767:V197I	V	+	1	0	HEATR3	48670236	0.926000	0.31397	0.779000	0.31741	0.993000	0.82548	1.464000	0.35288	1.569000	0.49696	0.637000	0.83480	GTT		0.378	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	0	NM_182922		16:50112735
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	C	rs121913385		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:21971111G>C	ENST00000304494.5	-	2	517	c.247C>G	c.(247-249)Cac>Gac	p.H83D	CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(289-291)gCa>gGa		cyclin-dependent kinase inhibitor 2A							12.0	15.0	14.0					9																	21971111		2176	4259	6435	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971111G>C	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>G	9.37:g.21971111G>C	ENSP00000307101:p.His83Asp	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G	p.A97G			WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	582	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		L -> R (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.290C>G	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311283|4.311283	0.81358|0.81358	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71341	-1.37;-1.3|-0.56;-0.56	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77370|0.77370	0.4120|0.4120	L|L	0.27053|0.27053	0.805|0.805	0.45962|0.45962	D|D	0.998784|0.998784	P|D	0.36144|0.71674	0.539|0.998	B|D	0.37480|0.79784	0.251|0.993	T|T	0.77773|0.77773	-0.2462|-0.2462	10|9	0.54805|0.52906	T|T	0.06|0.07	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	G|D	138;97|83	ENSP00000355153:A138G;ENSP00000432664:A97G|ENSP00000307101:H83D;ENSP00000394932:H83D	ENSP00000355153:A138G|ENSP00000307101:H83D	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21971111
KIAA1551	55196	broad.mit.edu	37	12	32135653	32135653	+	Silent	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:32135653T>C	ENST00000312561.4	+	4	2178	c.1764T>C	c.(1762-1764)ctT>ctC	p.L588L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	588																	TCGCTTTGCTTTCACAGGCAC	0.358																																						ENST00000312561.4		NA																	0					NA						c.(1762-1764)ctT>ctC		KIAA1551							37.0	38.0	38.0					12																	32135653		2203	4299	6502	SO:0001819	synonymous_variant	55196							g.chr12:32135653T>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1764T>C	12.37:g.32135653T>C		True	False		Somatic	0				KIAA1551_ENST00000535596.1_Intron	p.L588L	NM_018169.3	NP_060639	WXS	Illumina HiSeq	Phase_I					4	2178	+			NA					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.1764T>C	CCDS8725.2																																																																																				0.358	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	0	NM_018169		12:32135653
CHML	1122	broad.mit.edu	37	1	241799053	241799053	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:241799053G>A	ENST00000366553.1	-	1	179	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	6					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AACTCTGTGGGAAGATTGTCC	0.433																																						ENST00000366553.1		NA																	0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(16-18)Ccc>Tcc		choroideremia-like (Rab escort protein 2)							57.0	60.0	59.0					1																	241799053		2202	4300	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241799053G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.16C>T	1.37:g.241799053G>A	ENSP00000355511:p.Pro6Ser	True	False		Somatic	0				OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	p.P6S	NM_001821.3	NP_001812.2	WXS	Illumina HiSeq	Phase_I	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	179	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	6					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.16C>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674542	0.47781	.	.	ENSG00000203668	ENST00000366553	T	0.59224	0.28	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	T	0.74816	0.3766	.	.	.	0.41587	D	0.988775	D	0.89917	1.0	D	0.97110	1.0	T	0.76405	-0.2971	9	0.59425	D	0.04	-8.0953	14.3144	0.66437	0.0:0.0:1.0:0.0	.	6	P26374	RAE2_HUMAN	S	6	ENSP00000355511:P6S	ENSP00000355511:P6S	P	-	1	0	CHML	239865676	1.000000	0.71417	0.959000	0.39883	0.543000	0.35085	4.210000	0.58500	2.840000	0.97914	0.655000	0.94253	CCC		0.433	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	0	NM_001821		1:241799053
GRID1	2894	broad.mit.edu	37	10	87362370	87362370	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:87362370G>A	ENST00000327946.7	-	16	2775	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	GRID1_ENST00000552278.2_5'UTR|RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.S468L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	897					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GAGCTCAATCGACGCTGGGGA	0.592										Multiple Myeloma(13;0.14)																												ENST00000327946.7		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2689-2691)tCg>tTg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						43.0	38.0	40.0					10																	87362370		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362370G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2690C>T	10.37:g.87362370G>A	ENSP00000330148:p.Ser897Leu	False	False	Multiple Myeloma(13;0.14)	Somatic	0				GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.S468L	p.S897L	NM_017551.2	NP_060021.1	WXS	Illumina HiSeq	Phase_I	Q9ULK0	GRID1_HUMAN			16	2775	-			897					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2690C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708583	0.68615	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.16457	2.59;2.34	5.74	4.84	0.62591	.	0.047518	0.85682	D	0.000000	T	0.34424	0.0897	L	0.55481	1.735	0.58432	D	0.999998	D	0.64830	0.994	D	0.64042	0.921	T	0.05971	-1.0853	10	0.62326	D	0.03	.	13.749	0.62894	0.0737:0.0:0.9263:0.0	.	897	Q9ULK0	GRID1_HUMAN	L	897;468	ENSP00000330148:S897L;ENSP00000444455:S468L	ENSP00000330148:S897L	S	-	2	0	GRID1	87352350	1.000000	0.71417	0.619000	0.29118	0.608000	0.37181	9.869000	0.99810	1.430000	0.47334	-0.218000	0.12543	TCG		0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	0	XM_043613		10:87362370
IGKV1-5	28299	broad.mit.edu	37	2	89246938	89246938	+	RNA	SNP	T	T	C	rs545223247	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:89246938T>C	ENST00000496168.1	-	0	412							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GGGACCCCACTTTCTAAACTA	0.507													.|||	4	0.000798722	0.0008	0.0029	5008	,	,		8755	0.0		0.001	False		,,,				2504	0.0					ENST00000496168.1		NA																	0					NA															137.0	126.0	130.0					2																	89246938		1868	4087	5955			0							g.chr2:89246938T>C	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89246938T>C		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	412	-			NA						RNA	SNP	ENST00000496168.1	37																																																																																						0.507	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	0	NG_000834		2:89246938
CLTCL1	8218	broad.mit.edu	37	22	19184149	19184149	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:19184149C>T	ENST00000263200.10	-	25	3964	c.3892G>A	c.(3892-3894)Gag>Aag	p.E1298K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1298K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1298K|CLTCL1_ENST00000442042.2_5'UTR	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1298	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGATCAGCTCCTCAAAGTAG	0.612			T	?	ALCL																																	ENST00000263200.10		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3892-3894)Gag>Aag		clathrin, heavy chain-like 1							24.0	28.0	27.0					22																	19184149		2139	4248	6387	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19184149C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3892G>A	22.37:g.19184149C>T	ENSP00000445677:p.Glu1298Lys	False	False		Somatic	0				CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1298K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1298K	p.E1298K	NM_007098.3	NP_009029.3	WXS	Illumina HiSeq	Phase_I	P53675	CLH2_HUMAN			25	3964	-	Colorectal(54;0.0993)		1298			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3892G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921732	0.73213	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.35048	1.33;1.33;1.33	3.5	3.5	0.40072	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.67126	0.2860	M	0.93106	3.38	0.80722	D	1	P;D;P;P	0.59767	0.528;0.986;0.882;0.745	P;D;P;P	0.70016	0.628;0.967;0.852;0.677	T	0.78370	-0.2230	10	0.87932	D	0	-16.3906	15.1691	0.72854	0.0:1.0:0.0:0.0	.	1298;121;121;1298	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	K	1298	ENSP00000439662:E1298K;ENSP00000445677:E1298K;ENSP00000441158:E1298K	ENSP00000445677:E1298K	E	-	1	0	CLTCL1	17564149	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	5.268000	0.65536	1.802000	0.52723	0.491000	0.48974	GAG		0.612	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	0	NM_007098		22:19184149
ADAMTS16	170690	broad.mit.edu	37	5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:5239938G>A	ENST00000274181.7	+	16	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	808	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512																																						ENST00000274181.7		NA																	0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2422-2424)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 16							97.0	94.0	95.0					5																	5239938		1859	4088	5947	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239938G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2423G>A	5.37:g.5239938G>A	ENSP00000274181:p.Arg808Gln	True	False		Somatic	0					p.R808Q	NM_139056.2	NP_620687.2	WXS	Illumina HiSeq	Phase_I	Q8TE57	ATS16_HUMAN			16	2561	+			808			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2423G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660533	0.47572	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.50277	0.75	5.56	4.69	0.59074	ADAM-TS Spacer 1 (1);	0.275899	0.31020	N	0.008407	T	0.32041	0.0816	L	0.35542	1.07	0.09310	N	0.999998	B;B	0.26081	0.141;0.085	B;B	0.18561	0.02;0.022	T	0.14868	-1.0457	10	0.26408	T	0.33	.	7.7049	0.28644	0.246:0.0:0.754:0.0	.	808;808	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	808	ENSP00000274181:R808Q	ENSP00000274181:R808Q	R	+	2	0	ADAMTS16	5292938	0.005000	0.15991	0.498000	0.27564	0.973000	0.67179	1.239000	0.32719	1.355000	0.45865	0.655000	0.94253	CGG		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	NM_139056		5:5239938
ANKRD30A	91074	broad.mit.edu	37	10	37506771	37506771	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:37506771A>G	ENST00000602533.1	+	33	3163	c.3064A>G	c.(3064-3066)Ata>Gta	p.I1022V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1022V|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I1141V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1078					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATACAAGATATAGAATTGAA	0.274																																						ENST00000374660.1		NA																	0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3421-3423)Ata>Gta		ankyrin repeat domain 30A							62.0	62.0	62.0					10																	37506771		1806	4060	5866	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37506771A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3064A>G	10.37:g.37506771A>G	ENSP00000473551:p.Ile1022Val	False	False		Somatic	0				ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1022V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1022V	p.I1141V			WXS	Illumina HiSeq	Phase_I	Q9BXX3	AN30A_HUMAN			39	3520	+			1116					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3421A>G		.	.	.	.	.	.	.	.	.	.	a	0.004	-2.272481	0.00257	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.16457	2.34;2.34	2.78	-5.55	0.02536	.	.	.	.	.	T	0.05640	0.0148	N	0.16368	0.405	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41215	-0.9521	9	0.02654	T	1	.	1.7614	0.02992	0.2387:0.2515:0.3726:0.1371	.	1078	Q9BXX3	AN30A_HUMAN	V	1022;1141	ENSP00000354432:I1022V;ENSP00000363792:I1141V	ENSP00000354432:I1022V	I	+	1	0	ANKRD30A	37546777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.305000	0.02738	-1.298000	0.02348	-0.435000	0.05868	ATA		0.274	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	0	NM_052997		10:37506771
NRXN2	9379	broad.mit.edu	37	11	64434761	64434761	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:64434761C>T	ENST00000377551.1	-	8	1970	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000265459.6_Missense_Mutation_p.E587K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K			Q9P2S2	NRX2A_HUMAN	neurexin 2	587	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.E587K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACACCACTCGCCATCATTG	0.592																																						ENST00000265459.6		NA																	1	Substitution - Missense(1)	p.E587K(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(1759-1761)Gag>Aag		neurexin 2							92.0	75.0	81.0					11																	64434761		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64434761C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1759G>A	11.37:g.64434761C>T	ENSP00000366774:p.Glu587Lys	False	False		Somatic	0				NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E587K	p.E587K	NM_015080.3	NP_055895.1	WXS	Illumina HiSeq	Phase_I	Q9P2S2	NRX2A_HUMAN			9	2220	-			587			Laminin G-like 3.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1759G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087169	0.94100	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	U	0.000657	T	0.80491	0.4633	L	0.28115	0.83	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.69479	0.964;0.936;0.909	T	0.83054	-0.0151	10	0.72032	D	0.01	.	14.9631	0.71171	0.0:1.0:0.0:0.0	.	556;587;333	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	587;556;587;556;580	ENSP00000366774:E587K;ENSP00000366782:E556K;ENSP00000265459:E587K;ENSP00000386416:E580K	ENSP00000265459:E587K	E	-	1	0	NRXN2	64191337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.637000	0.83313	2.383000	0.81215	0.448000	0.29417	GAG		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	0	NM_015080		11:64434761
PRR11	55771	broad.mit.edu	37	17	57271031	57271031	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271031C>T	ENST00000262293.4	+	5	893	c.581C>T	c.(580-582)cCa>cTa	p.P194L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	194	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ccacctctgccacctcctccA	0.522																																						ENST00000262293.4		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16						c.(580-582)cCa>cTa		proline rich 11							110.0	84.0	93.0					17																	57271031		2203	4300	6503	SO:0001583	missense	55771							g.chr17:57271031C>T		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.581C>T	17.37:g.57271031C>T	ENSP00000262293:p.Pro194Leu	False	False		Somatic	0					p.P194L	NM_018304.3	NP_060774.2	WXS	Illumina HiSeq	Phase_I	Q96HE9	PRR11_HUMAN			5	893	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		194			Pro-rich.		Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	c.581C>T	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383406	0.25031	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	4.52	0.55395	.	0.095162	0.46758	D	0.000275	T	0.34803	0.0910	L	0.32530	0.975	0.29978	N	0.817993	B	0.32101	0.356	B	0.38562	0.276	T	0.34601	-0.9822	9	0.49607	T	0.09	-12.7697	9.5504	0.39306	0.0:0.9057:0.0:0.0943	.	194	Q96HE9	PRR11_HUMAN	L	194	.	ENSP00000262293:P194L	P	+	2	0	PRR11	54625813	0.317000	0.24589	0.100000	0.21137	0.005000	0.04900	1.615000	0.36922	2.729000	0.93468	0.561000	0.74099	CCA		0.522	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	0	NM_018304		17:57271031
PRR11	55771	broad.mit.edu	37	17	57271093	57271093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271093C>T	ENST00000262293.4	+	5	955	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	215						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TAAAGCACTTCAGGTAGGTAA	0.473																																						ENST00000262293.4		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16						c.(643-645)Cag>Tag		proline rich 11							100.0	85.0	90.0					17																	57271093		2203	4300	6503	SO:0001587	stop_gained	55771							g.chr17:57271093C>T		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.643C>T	17.37:g.57271093C>T	ENSP00000262293:p.Gln215*	True	False		Somatic	0					p.Q215*	NM_018304.3	NP_060774.2	WXS	Illumina HiSeq	Phase_I	Q96HE9	PRR11_HUMAN			5	955	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		215					Q9NUZ7|Q9NXE9	Nonsense_Mutation	SNP	ENST00000262293.4	37	c.643C>T	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127327	0.37533	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	5.5	0.81552	.	0.107189	0.41938	D	0.000783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.9529	16.467	0.84081	0.0:1.0:0.0:0.0	.	.	.	.	X	215	.	ENSP00000262293:Q215X	Q	+	1	0	PRR11	54625875	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	3.865000	0.56033	2.729000	0.93468	0.561000	0.74099	CAG		0.473	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	0	NM_018304		17:57271093
GJB4	127534	broad.mit.edu	37	1	35227279	35227279	+	Missense_Mutation	SNP	G	G	A	rs561459140		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:35227279G>A	ENST00000339480.1	+	2	794	c.424G>A	c.(424-426)Gat>Aat	p.D142N	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	142					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGCCGTGGATGCTGGCTT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19171	0.0		0.0	False		,,,				2504	0.0					ENST00000339480.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(424-426)Gat>Aat		gap junction protein, beta 4, 30.3kDa							80.0	62.0	68.0					1																	35227279		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227279G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.424G>A	1.37:g.35227279G>A	ENSP00000345868:p.Asp142Asn	False	False		Somatic	0				RP1-34M23.5_ENST00000542839.1_RNA	p.D142N	NM_153212.2	NP_694944.1	WXS	Illumina HiSeq	Phase_I	Q9NTQ9	CXB4_HUMAN			2	794	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	142					B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.424G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436444	0.62955	.	.	ENSG00000189433	ENST00000339480	D	0.95724	-3.79	5.73	4.82	0.62117	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	M	0.81112	2.525	0.47153	D	0.999335	D	0.76494	0.999	D	0.73708	0.981	D	0.98052	1.0388	10	0.87932	D	0	.	14.4153	0.67145	0.0715:0.0:0.9285:0.0	.	142	Q9NTQ9	CXB4_HUMAN	N	142	ENSP00000345868:D142N	ENSP00000345868:D142N	D	+	1	0	GJB4	34999866	1.000000	0.71417	0.136000	0.22124	0.034000	0.12701	7.966000	0.87956	1.440000	0.47531	0.655000	0.94253	GAT		0.612	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	0	NM_153212		1:35227279
OR1A1	8383	broad.mit.edu	37	17	3119669	3119669	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:3119669G>A	ENST00000304094.1	+	1	755	c.755G>A	c.(754-756)gGt>gAt	p.G252D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTATTATGGTACAGTCATG	0.498																																						ENST00000304094.1		NA																	0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(754-756)gGt>gAt		olfactory receptor, family 1, subfamily A, member 1							160.0	137.0	144.0					17																	3119669		2203	4300	6503	SO:0001583	missense	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119669G>A	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.755G>A	17.37:g.3119669G>A	ENSP00000305207:p.Gly252Asp	False	False		Somatic	0					p.G252D	NM_014565.2	NP_055380.2	WXS	Illumina HiSeq	Phase_I	Q9P1Q5	OR1A1_HUMAN			1	755	+			252					A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	c.755G>A	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111392	0.56398	.	.	ENSG00000172146	ENST00000304094	T	0.39229	1.09	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.78748	0.4332	H	0.98333	4.205	0.32665	N	0.517561	D	0.89917	1.0	D	0.97110	1.0	D	0.88672	0.3196	10	0.87932	D	0	.	17.1395	0.86749	0.0:0.0:1.0:0.0	.	252	Q9P1Q5	OR1A1_HUMAN	D	252	ENSP00000305207:G252D	ENSP00000305207:G252D	G	+	2	0	OR1A1	3066419	0.925000	0.31364	1.000000	0.80357	0.607000	0.37147	1.912000	0.39946	2.632000	0.89209	0.511000	0.50034	GGT		0.498	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	0	NM_014565		17:3119669
FAM154A	158297	broad.mit.edu	37	9	18941744	18941744	+	Silent	SNP	C	C	T	rs112030642		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:18941744C>T	ENST00000380534.4	-	3	591	c.312G>A	c.(310-312)acG>acA	p.T104T	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTTTCTTATACGTCGTGAGCA	0.478																																						ENST00000380534.4		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(310-312)acG>acA		family with sequence similarity 154, member A							196.0	169.0	178.0					9																	18941744		2203	4300	6503	SO:0001819	synonymous_variant	158297							g.chr9:18941744C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.312G>A	9.37:g.18941744C>T		False	False		Somatic	0				FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	p.T104T	NM_153707.2	NP_714918.2	WXS	Illumina HiSeq	Phase_I	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	3	591	-			104					Q5VY58	Silent	SNP	ENST00000380534.4	37	c.312G>A	CCDS6487.1																																																																																				0.478	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	0	NM_153707		9:18941744
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453													N|||	6	0.00119808	0.0	0.0	5008	,	,		22333	0.0		0.006	False		,,,				2504	0.0					ENST00000333973.2		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(457-459)aCg>aTg		olfactory receptor, family 5, subfamily L, member 1							217.0	181.0	193.0					11																	55579400		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579400C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.458C>T	11.37:g.55579400C>T	ENSP00000335529:p.Thr153Met	False	False		Somatic	0					p.T153M	NM_001004738.1	NP_001004738.1	WXS	Illumina HiSeq	Phase_I	Q8NGL2	OR5L1_HUMAN			1	547	+		all_epithelial(135;0.208)	153					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.458C>T	CCDS31509.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	c	9.351	1.065546	0.20067	.	.	ENSG00000186117	ENST00000333973	T	0.00091	8.74	3.98	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.729368	0.12300	N	0.481164	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.25105	0.118	B	0.28991	0.097	T	0.09292	-1.0681	10	0.44086	T	0.13	-0.6723	10.911	0.47108	0.0:0.2882:0.0:0.7118	.	153	Q8NGL2	OR5L1_HUMAN	M	153	ENSP00000335529:T153M	ENSP00000335529:T153M	T	+	2	0	OR5L1	55335976	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.308000	0.08156	-0.861000	0.04094	-0.516000	0.04426	ACG		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	0	NM_001004738		11:55579400
NBEA	26960	broad.mit.edu	37	13	35735929	35735929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:35735929C>T	ENST00000400445.3	+	23	4438	c.3904C>T	c.(3904-3906)Cga>Tga	p.R1302*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.R1302*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R1302*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R1302*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1302					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCGAGATCTCCGAGTTGATTT	0.433																																						ENST00000400445.3		NA																	0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(3904-3906)Cga>Tga		neurobeachin							104.0	97.0	99.0					13																	35735929		1922	4124	6046	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35735929C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3904C>T	13.37:g.35735929C>T	ENSP00000383295:p.Arg1302*	False	False		Somatic	0				NBEA_ENST00000379939.2_Nonsense_Mutation_p.R1302*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.R1302*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R1302*	p.R1302*	NM_015678.4	NP_056493.3	WXS	Illumina HiSeq	Phase_I	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	23	4438	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1302					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.3904C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	48	13.944603	0.99771	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	.	.	.	5.04	1.83	0.25207	.	0.156994	0.42548	D	0.000689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3905	0.66975	0.4506:0.5494:0.0:0.0	.	.	.	.	X	1302	.	ENSP00000308534:R1302X	R	+	1	2	NBEA	34633929	0.982000	0.34865	0.995000	0.50966	0.984000	0.73092	0.644000	0.24766	0.481000	0.27557	0.591000	0.81541	CGA		0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_015678		13:35735929
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T	rs587781991		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:7578526C>T	ENST00000269305.4	-	5	593	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000420246.2_Missense_Mutation_p.C135Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y	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	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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)	GGCCAGTTGGCAAAACATCTT	0.572		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"""		152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(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.(403-405)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578526		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.chr17:7578526C>T	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.404G>A	17.37:g.7578526C>T	ENSP00000269305:p.Cys135Tyr	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_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000269305.4_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y	p.C135Y	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)	5	536	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	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.404G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639320	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	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	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.929;1.0;1.0;1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135Y;ENSP00000352610:C135Y;ENSP00000269305:C135Y;ENSP00000398846:C135Y;ENSP00000391127:C135Y;ENSP00000391478:C135Y;ENSP00000425104:C3Y;ENSP00000423862:C42Y;ENSP00000424104:C135Y	ENSP00000269305:C135Y	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578526
NTNG1	22854	broad.mit.edu	37	1	107979392	107979392	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:107979392C>T	ENST00000370068.1	+	7	2207	c.1361C>T	c.(1360-1362)cCg>cTg	p.P454L	NTNG1_ENST00000370061.3_Missense_Mutation_p.P420L|NTNG1_ENST00000370073.2_Missense_Mutation_p.P454L|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.P454L|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370066.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	454	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTGTCTGCCGGGAAATTCC	0.517																																						ENST00000370068.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1360-1362)cCg>cTg		netrin G1							155.0	134.0	140.0					1																	107979392		1568	3582	5150	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107979392C>T	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1361C>T	1.37:g.107979392C>T	ENSP00000359085:p.Pro454Leu	True	False		Somatic	0				NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.P454L|NTNG1_ENST00000370061.3_Missense_Mutation_p.P420L|NTNG1_ENST00000542803.1_Missense_Mutation_p.P454L|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370070.2_Intron	p.P454L			WXS	Illumina HiSeq	Phase_I	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	2207	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	454			Laminin EGF-like 3.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1361C>T	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274201	0.59649	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.87	5.87	0.94306	EGF-like, laminin (3);	0.000000	0.64402	D	0.000017	T	0.64034	0.2562	M	0.84773	2.715	0.80722	D	1	D;P	0.53462	0.96;0.935	P;P	0.46940	0.532;0.449	T	0.64972	-0.6281	10	0.30078	T	0.28	.	16.7906	0.85589	0.0:0.8715:0.1285:0.0	.	420;454	B4DKF0;Q9Y2I2	.;NTNG1_HUMAN	L	454;454;420;257;201;454	ENSP00000359090:P454L;ENSP00000440561:P454L;ENSP00000359078:P420L;ENSP00000359085:P454L	ENSP00000359078:P420L	P	+	2	0	NTNG1	107780915	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.584000	0.60971	2.941000	0.99782	0.655000	0.94253	CCG		0.517	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	0	NM_014917		1:107979392
RYBP	23429	broad.mit.edu	37	3	72427709	72427709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:72427709C>T	ENST00000477973.2	-	4	778	c.779G>A	c.(778-780)aGa>aAa	p.R260K		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTTAAAGTCTGTGATAATG	0.552																																						ENST00000477973.2		NA																	0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(778-780)aGa>aAa		RING1 and YY1 binding protein							128.0	124.0	126.0					3																	72427709		2119	4236	6355	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72427709C>T	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.779G>A	3.37:g.72427709C>T	ENSP00000419494:p.Arg260Lys	False	False		Somatic	0					p.R260K	NM_012234.5	NP_036366.3	WXS	Illumina HiSeq	Phase_I	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	4	778	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	NA					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.779G>A		.	.	.	.	.	.	.	.	.	.	C	27.5	4.834301	0.91036	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	T	0.79482	0.4453	M	0.66939	2.045	.	.	.	.	.	.	.	.	.	T	0.75534	-0.3284	4	.	.	.	-15.2615	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	K	260	.	.	R	-	2	0	RYBP	72510399	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	AGA		0.552	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	0	NM_012234		3:72427709
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	G	A	rs377025983		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	654	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637																																						ENST00000262320.3		NA																	0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1960-1962)tCg>tTg		axin 1		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	86.0	93.0	91.0		1961,1961	4.2	0.5	16		91	0,8600		0,0,4300	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	654/863,654/827	343713	1,13005	2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:343713G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1961C>T	16.37:g.343713G>A	ENSP00000262320:p.Ser654Leu	True	False		Somatic	0				AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	p.S654L	NM_003502.3	NP_003493.1	WXS	Illumina HiSeq	Phase_I	O15169	AXIN1_HUMAN			8	2332	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	654			Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1961C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373947	0.61735	2.27E-4	0.0	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.61742	0.08;0.08	4.17	4.17	0.49024	.	0.309451	0.34853	N	0.003624	T	0.65471	0.2694	M	0.63843	1.955	0.47153	D	0.99933	D;D	0.64830	0.994;0.99	P;P	0.52909	0.713;0.52	T	0.69068	-0.5243	10	0.48119	T	0.1	-21.2179	15.6374	0.76966	0.0:0.0:1.0:0.0	.	654;654	O15169-2;O15169	.;AXIN1_HUMAN	L	654	ENSP00000262320:S654L;ENSP00000346935:S654L	ENSP00000262320:S654L	S	-	2	0	AXIN1	283714	1.000000	0.71417	0.509000	0.27700	0.094000	0.18550	4.945000	0.63568	2.185000	0.69588	0.478000	0.44815	TCG		0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3	0			16:343713
DYSF	8291	broad.mit.edu	37	2	71741003	71741003	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:71741003T>A	ENST00000258104.3	+	6	892	c.615T>A	c.(613-615)agT>agA	p.S205R	DYSF_ENST00000409744.1_Missense_Mutation_p.S206R|DYSF_ENST00000413539.2_Missense_Mutation_p.S236R|DYSF_ENST00000409582.3_Missense_Mutation_p.S236R|DYSF_ENST00000429174.2_Missense_Mutation_p.S205R|DYSF_ENST00000394120.2_Missense_Mutation_p.S206R|DYSF_ENST00000410041.1_Missense_Mutation_p.S237R|DYSF_ENST00000409651.1_Missense_Mutation_p.S237R|DYSF_ENST00000409762.1_Missense_Mutation_p.S236R|DYSF_ENST00000409366.1_Missense_Mutation_p.S206R|DYSF_ENST00000410020.3_Missense_Mutation_p.S237R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	205					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAAGCGAAGTGCGCCTACAT	0.582																																						ENST00000258104.3		NA																	0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(613-615)agT>agA		dysferlin							55.0	57.0	57.0					2																	71741003		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71741003T>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.615T>A	2.37:g.71741003T>A	ENSP00000258104:p.Ser205Arg	False	False		Somatic	0				DYSF_ENST00000413539.2_Missense_Mutation_p.S236R|DYSF_ENST00000409366.1_Missense_Mutation_p.S206R|DYSF_ENST00000409651.1_Missense_Mutation_p.S237R|DYSF_ENST00000394120.2_Missense_Mutation_p.S206R|DYSF_ENST00000429174.2_Missense_Mutation_p.S205R|DYSF_ENST00000410041.1_Missense_Mutation_p.S237R|DYSF_ENST00000409762.1_Missense_Mutation_p.S236R|DYSF_ENST00000409744.1_Missense_Mutation_p.S206R|DYSF_ENST00000410020.3_Missense_Mutation_p.S237R|DYSF_ENST00000409582.3_Missense_Mutation_p.S236R	p.S205R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina HiSeq	Phase_I	O75923	DYSF_HUMAN			6	892	+			205					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.615T>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	0.964	-0.702308	0.03255	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.68;-1.67;-1.68;-1.67;-1.67;-1.67;-1.68;-1.68	4.79	0.606	0.17559	.	0.256158	0.39475	N	0.001360	T	0.67590	0.2909	N	0.16478	0.41	0.20307	N	0.999918	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.19445	0.036;0.036;0.036;0.02;0.0;0.0;0.0;0.0;0.036;0.0;0.02;0.02;0.036;0.012	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31290	0.127;0.127;0.127;0.088;0.003;0.001;0.003;0.005;0.127;0.002;0.088;0.127;0.127;0.06	T	0.52756	-0.8533	10	0.17832	T	0.49	-14.3939	7.9678	0.30109	0.0:0.5926:0.0:0.4074	.	237;237;206;206;237;206;236;205;236;236;205;205;206;205	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	R	236;236;236;205;205;237;206;206;206;237;237	ENSP00000407046:S236R;ENSP00000387137:S236R;ENSP00000386547:S236R;ENSP00000398305:S205R;ENSP00000258104:S205R;ENSP00000386683:S237R;ENSP00000377678:S206R;ENSP00000386285:S206R;ENSP00000386512:S206R;ENSP00000386881:S237R;ENSP00000386617:S237R	ENSP00000258104:S205R	S	+	3	2	DYSF	71594511	0.086000	0.21541	0.034000	0.17996	0.020000	0.10135	0.392000	0.20801	-0.114000	0.11936	-0.384000	0.06662	AGT		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	0	NM_003494		2:71741003
PCDH18	54510	broad.mit.edu	37	4	138451227	138451227	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:138451227C>T	ENST00000344876.4	-	1	2402	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PCDH18_ENST00000507846.1_Silent_p.L452L|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.L672L|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	672	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCATGCACTTCAGAAGGACTT	0.423																																						ENST00000344876.4		NA																	0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2014-2016)ctG>ctA		protocadherin 18							169.0	159.0	163.0					4																	138451227		2203	4300	6503	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451227C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2016G>A	4.37:g.138451227C>T		False	False		Somatic	0				PCDH18_ENST00000412923.2_Silent_p.L672L|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.L452L|PCDH18_ENST00000511115.1_Intron	p.L672L	NM_019035.3	NP_061908.1	WXS	Illumina HiSeq	Phase_I	Q9HCL0	PCD18_HUMAN			1	2402	-	all_hematologic(180;0.24)		672			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.2016G>A	CCDS34064.1																																																																																				0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	0	NM_019035		4:138451227
NPAP1	23742	broad.mit.edu	37	15	24921804	24921804	+	Missense_Mutation	SNP	G	G	A	rs138010778	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:24921804G>A	ENST00000329468.2	+	1	1264	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	264					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGCGCCCCCTGAGCCAGCCGT	0.637																																						ENST00000329468.2		NA																	0					NA						c.(790-792)Gag>Aag		nuclear pore associated protein 1							29.0	33.0	32.0					15																	24921804		2202	4295	6497	SO:0001583	missense	23742							g.chr15:24921804G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.790G>A	15.37:g.24921804G>A	ENSP00000333735:p.Glu264Lys	True	False		Somatic	0					p.E264K	NM_018958.2	NP_061831.2	WXS	Illumina HiSeq	Phase_I					1	1264	+			NA						Missense_Mutation	SNP	ENST00000329468.2	37	c.790G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.614	0.114086	0.08831	.	.	ENSG00000185823	ENST00000329468	T	0.06142	3.34	1.78	-0.215	0.13157	.	2.345200	0.02564	N	0.097112	T	0.06005	0.0156	N	0.22421	0.69	0.09310	N	1	P	0.49559	0.925	P	0.46510	0.519	T	0.24621	-1.0155	10	0.20519	T	0.43	.	3.0879	0.06284	0.1867:0.2874:0.5259:0.0	.	264	Q9NZP6	CO002_HUMAN	K	264	ENSP00000333735:E264K	ENSP00000333735:E264K	E	+	1	0	C15orf2	22472897	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.284000	0.08422	-0.048000	0.13401	-1.376000	0.01182	GAG		0.637	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	0	NM_018958		15:24921804
FRMPD3	84443	broad.mit.edu	37	X	106845431	106845431	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:106845431T>C	ENST00000276185.4	+	16	4261	c.4261T>C	c.(4261-4263)Tac>Cac	p.Y1421H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1421						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGCTCCCAATTACAGGAAACT	0.617																																						ENST00000276185.4		NA																	0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(4261-4263)Tac>Cac		FERM and PDZ domain containing 3							85.0	82.0	83.0					X																	106845431		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106845431T>C	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4261T>C	X.37:g.106845431T>C	ENSP00000276185:p.Tyr1421His	False	False		Somatic	0					p.Y1421H			WXS	Illumina HiSeq	Phase_I	Q5JV73	FRPD3_HUMAN			16	4261	+			1421					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.4261T>C		.	.	.	.	.	.	.	.	.	.	t	12.50	1.957249	0.34565	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.22134	1.97;1.98	3.84	3.84	0.44239	.	0.251307	0.34338	N	0.004042	T	0.18923	0.0454	L	0.27053	0.805	0.22457	N	0.999087	.	.	.	.	.	.	T	0.10823	-1.0613	8	0.44086	T	0.13	.	11.1874	0.48664	0.0:0.0:0.0:1.0	.	.	.	.	H	1421;1369	ENSP00000276185:Y1421H;ENSP00000398668:Y1369H	ENSP00000276185:Y1421H	Y	+	1	0	FRMPD3	106732087	1.000000	0.71417	0.976000	0.42696	0.791000	0.44710	4.560000	0.60802	1.418000	0.47098	0.237000	0.17872	TAC		0.617	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	XM_042978		X:106845431
AGAP2	116986	broad.mit.edu	37	12	58127884	58127884	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:58127884G>A	ENST00000547588.1	-	5	1473	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	AGAP2_ENST00000257897.3_Missense_Mutation_p.R156C	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	492	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.R156S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCATGGAGACGGCTCACAGCC	0.592																																						ENST00000257897.3		NA																	1	Substitution - Missense(1)	p.R156S(1)	lung(1)	breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(466-468)Cgt>Tgt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							63.0	52.0	56.0					12																	58127884		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58127884G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1474C>T	12.37:g.58127884G>A	ENSP00000449241:p.Arg492Cys	False	False		Somatic	0				AGAP2_ENST00000547588.1_Missense_Mutation_p.R492C	p.R156C	NM_014770.3	NP_055585.1	WXS	Illumina HiSeq	Phase_I	Q99490	AGAP2_HUMAN			5	551	-			492					A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.466C>T	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.086143|3.086143	0.55861|0.55861	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.23552	.|1.9;1.9	5.43|5.43	3.6|3.6	0.41247|0.41247	.|Mitochondrial Rho-like (1);	.|0.401538	.|0.26092	.|N	.|0.026393	T|T	0.43986|0.43986	0.1272|0.1272	L|L	0.52905|0.52905	1.665|1.665	0.39166|0.39166	D|D	0.962491|0.962491	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|P;D;D	.|0.70487	.|0.671;0.948;0.969	T|T	0.34850|0.34850	-0.9812|-0.9812	5|10	.|0.56958	.|D	.|0.05	.|.	13.0081|13.0081	0.58717|0.58717	0.1502:0.0:0.8498:0.0|0.1502:0.0:0.8498:0.0	.|.	.|156;492;492	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	L|C	355|156;492	.|ENSP00000257897:R156C;ENSP00000449241:R492C	.|ENSP00000257897:R156C	P|R	-|-	2|1	0|0	AGAP2|AGAP2	56414151|56414151	0.258000|0.258000	0.24033|0.24033	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	0.557000|0.557000	0.23454|0.23454	0.378000|0.378000	0.24764|0.24764	-1.134000|-1.134000	0.01955|0.01955	CCG|CGT		0.592	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	0	NM_014770		12:58127884
ABHD15	116236	broad.mit.edu	37	17	27889843	27889843	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:27889843G>A	ENST00000307201.4	-	2	1313	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	381						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GCAGGAGGAAGAAGTAGGGGT	0.617																																						ENST00000307201.4		NA																	0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1141-1143)ttC>ttT		abhydrolase domain containing 15							70.0	72.0	71.0					17																	27889843		2203	4300	6503	SO:0001819	synonymous_variant	116236					extracellular region	carboxylesterase activity	g.chr17:27889843G>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1143C>T	17.37:g.27889843G>A		False	False		Somatic	0				RP11-68I3.2_ENST00000581474.1_RNA	p.F381F	NM_198147.2	NP_937790.2	WXS	Illumina HiSeq	Phase_I	Q6UXT9	ABH15_HUMAN			2	1313	-			381					Q96EC5	Silent	SNP	ENST00000307201.4	37	c.1143C>T	CCDS32602.1																																																																																				0.617	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	0	NM_198147		17:27889843
COL4A2	1284	broad.mit.edu	37	13	111121596	111121596	+	Missense_Mutation	SNP	G	G	A	rs375421811		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:111121596G>A	ENST00000360467.5	+	28	2434	c.2128G>A	c.(2128-2130)Gca>Aca	p.A710T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	710	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCAGGCTTCGCAGGAGCTGA	0.572																																						ENST00000360467.5		NA																	0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2128-2130)Gca>Aca		collagen, type IV, alpha 2		T	THR/ALA	0,3814		0,0,1907	70.0	69.0	69.0		2128	-5.1	0.1	13		69	1,8247		0,1,4123	no	missense	COL4A2	NM_001846.2	58	0,1,6030	AA,AG,GG		0.0121,0.0,0.0083	benign	710/1713	111121596	1,12061	1907	4124	6031	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111121596G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2128G>A	13.37:g.111121596G>A	ENSP00000353654:p.Ala710Thr	False	False		Somatic	0					p.A710T	NM_001846.2	NP_001837.2	WXS	Illumina HiSeq	Phase_I	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		28	2434	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	710			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2128G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888790	0.52014	0.0	1.21E-4	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.57	-5.12	0.02893	.	0.651803	0.13327	N	0.396252	D	0.85457	0.5701	L	0.42686	1.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71048	-0.4705	10	0.30078	T	0.28	.	4.5599	0.12154	0.1987:0.4843:0.1005:0.2165	.	710	P08572	CO4A2_HUMAN	T	710	ENSP00000353654:A710T	ENSP00000257309:A710T	A	+	1	0	COL4A2	109919597	0.000000	0.05858	0.061000	0.19648	0.006000	0.05464	-0.603000	0.05674	-0.842000	0.04195	-1.221000	0.01599	GCA		0.572	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	0	NM_001846		13:111121596
MROH5	389690	broad.mit.edu	37	8	142445279	142445279	+	RNA	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:142445279G>A	ENST00000606664.1	+	0	635				MROH5_ENST00000430863.1_RNA																							CCAGGCCAGCGTGCAGAAGAG	0.682																																						ENST00000606664.1		NA																	0					NA																																														0							g.chr8:142445279G>A																													8.37:g.142445279G>A		False	False		Somatic	0				MROH5_ENST00000430863.1_RNA				WXS	Illumina HiSeq	Phase_I					0	635	+			NA						RNA	SNP	ENST00000606664.1	37																																																																																						0.682	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1	0			8:142445279
FAM47A	158724	broad.mit.edu	37	X	34150323	34150323	+	Silent	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:34150323G>T	ENST00000346193.3	-	1	124	c.73C>A	c.(73-75)Cgg>Agg	p.R25R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	25										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCCGTTTGTTACAG	0.612																																						ENST00000346193.3		NA																	0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(73-75)Cgg>Agg		family with sequence similarity 47, member A							49.0	49.0	49.0					X																	34150323		2202	4300	6502	SO:0001819	synonymous_variant	158724							g.chrX:34150323G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.73C>A	X.37:g.34150323G>T		True	False		Somatic	0					p.R25R	NM_203408.3	NP_981953.2	WXS	Illumina HiSeq	Phase_I	Q5JRC9	FA47A_HUMAN			1	124	-			25					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.73C>A	CCDS43926.1																																																																																				0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	0	NM_203408		X:34150323
WDR47	22911	broad.mit.edu	37	1	109560150	109560150	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:109560150C>A	ENST00000369962.3	-	3	454	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	WDR47_ENST00000357672.3_Intron|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000400794.3_Missense_Mutation_p.D78Y|WDR47_ENST00000369965.4_Missense_Mutation_p.D78Y			O94967	WDR47_HUMAN	WD repeat domain 47	78	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTTTTTTTGTCAAATTTTTCC	0.289																																						ENST00000369965.4		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(232-234)Gac>Tac		WD repeat domain 47							62.0	68.0	66.0					1																	109560150		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109560150C>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.232G>T	1.37:g.109560150C>A	ENSP00000358979:p.Asp78Tyr	True	False		Somatic	0				WDR47_ENST00000400794.3_Missense_Mutation_p.D78Y|WDR47_ENST00000369962.3_Missense_Mutation_p.D78Y|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron	p.D78Y	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	WXS	Illumina HiSeq	Phase_I	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	3	492	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	78			CTLH.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.232G>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564866	0.86439	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000529074;ENST00000528747	T;T;T	0.60171	0.23;0.25;0.21	5.97	5.97	0.96955	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.995;0.995;0.998	T	0.72510	-0.4271	10	0.87932	D	0	-14.641	20.4239	0.99064	0.0:1.0:0.0:0.0	.	78;78;78	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	Y	78;78;78;78;5;78	ENSP00000383599:D78Y;ENSP00000358979:D78Y;ENSP00000358982:D78Y	ENSP00000358979:D78Y	D	-	1	0	WDR47	109361673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.466000	0.80914	2.828000	0.97474	0.655000	0.94253	GAC		0.289	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	0	NM_014969		1:109560150
KCNJ4	3761	broad.mit.edu	37	22	38823340	38823340	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:38823340G>A	ENST00000303592.3	-	2	1056	c.798C>T	c.(796-798)gaC>gaT	p.D266D	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	266					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCTGTCCTCGTCGATCTCGT	0.607																																						ENST00000303592.3		NA																	0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(796-798)gaC>gaT		potassium inwardly-rectifying channel, subfamily J, member 4							93.0	77.0	83.0					22																	38823340		2203	4300	6503	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823340G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.798C>T	22.37:g.38823340G>A		False	False		Somatic	0				RP3-434P1.6_ENST00000433230.1_RNA	p.D266D	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	WXS	Illumina HiSeq	Phase_I	P48050	IRK4_HUMAN			2	1056	-	Melanoma(58;0.0286)		266					Q14D44	Silent	SNP	ENST00000303592.3	37	c.798C>T	CCDS13971.1																																																																																				0.607	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	0	NM_004981		22:38823340
KCNN1	3780	broad.mit.edu	37	19	18099263	18099263	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:18099263C>T	ENST00000222249.9	+	7	1418	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	367					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	TGTGGTGGCTCGGAAGCTGGA	0.637																																						ENST00000222249.9		NA																	0				endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						c.(1099-1101)Cgg>Tgg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1							41.0	45.0	44.0					19																	18099263		2203	4296	6499	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18099263C>T	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1099C>T	19.37:g.18099263C>T	ENSP00000476519:p.Arg367Trp	False	False		Somatic	0					p.R367W	NM_002248.3	NP_002239.2	WXS	Illumina HiSeq	Phase_I	Q92952	KCNN1_HUMAN			7	1418	+			NA					Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.1099C>T		.	.	.	.	.	.	.	.	.	.	C	19.27	3.795298	0.70452	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.61	4.61	0.57282	Ion transport 2 (1);Calmodulin-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79052	0.4381	M	0.86028	2.79	0.51482	D	0.999927	D	0.89917	1.0	D	0.85130	0.997	T	0.81927	-0.0709	9	0.87932	D	0	-29.1479	10.2569	0.43403	0.1978:0.8022:0.0:0.0	.	367	Q92952	KCNN1_HUMAN	W	384;367	.	ENSP00000222249:R384W	R	+	1	2	KCNN1	17960263	0.920000	0.31207	0.996000	0.52242	0.910000	0.53928	0.876000	0.28092	2.116000	0.64780	0.561000	0.74099	CGG		0.637	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	0	NM_002248		19:18099263
ZNF267	10308	broad.mit.edu	37	16	31926313	31926313	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:31926313A>G	ENST00000300870.10	+	4	952	c.743A>G	c.(742-744)gAa>gGa	p.E248G		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	248					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAATGTAAAGAATTTGAGGAA	0.303																																						ENST00000300870.10		NA																	0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(742-744)gAa>gGa		zinc finger protein 267							27.0	29.0	28.0					16																	31926313		2171	4259	6430	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926313A>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.743A>G	16.37:g.31926313A>G	ENSP00000300870:p.Glu248Gly	False	False		Somatic	0					p.E248G	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	WXS	Illumina HiSeq	Phase_I	Q14586	ZN267_HUMAN			4	952	+			248					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.743A>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.655457	0.29425	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.17528	2.27	0.458	0.458	0.16670	.	.	.	.	.	T	0.16557	0.0398	M	0.63169	1.94	0.26123	N	0.980529	B	0.06786	0.001	B	0.01281	0.0	T	0.27571	-1.0070	9	0.87932	D	0	.	5.2013	0.15267	0.9999:0.0:1.0E-4:0.0	.	248	Q14586	ZN267_HUMAN	G	248;215	ENSP00000300870:E248G	ENSP00000300870:E248G	E	+	2	0	ZNF267	31833814	0.001000	0.12720	0.109000	0.21407	0.096000	0.18686	0.550000	0.23345	0.407000	0.25591	0.397000	0.26171	GAA		0.303	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	0	NM_003414		16:31926313
FAM179B	23116	broad.mit.edu	37	14	45431977	45431977	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr14:45431977C>T	ENST00000361577.3	+	1	567	c.353C>T	c.(352-354)gCt>gTt	p.A118V	KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A118V|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A118V|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	118										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTTGCAAGCTGCTTTGCCG	0.617																																						ENST00000361462.2		NA																	0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(352-354)gCt>gTt		family with sequence similarity 179, member B							60.0	68.0	65.0					14																	45431977		2201	4298	6499	SO:0001583	missense	23116						binding	g.chr14:45431977C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.353C>T	14.37:g.45431977C>T	ENSP00000355045:p.Ala118Val	False	False		Somatic	0				FAM179B_ENST00000361577.3_Missense_Mutation_p.A118V|FAM179B_ENST00000382233.2_Missense_Mutation_p.A118V	p.A118V			WXS	Illumina HiSeq	Phase_I	Q9Y4F4	F179B_HUMAN			1	536	+			118					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.353C>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038206	0.75617	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.56611	0.45;0.45;0.45	4.88	4.88	0.63580	Armadillo-like helical (1);	0.146929	0.31554	N	0.007443	T	0.58235	0.2108	N	0.24115	0.695	0.31602	N	0.6526	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	T	0.64170	-0.6470	10	0.66056	D	0.02	-11.2912	13.4039	0.60900	0.0:1.0:0.0:0.0	.	118;118;118;118	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	118	ENSP00000355045:A118V;ENSP00000354917:A118V;ENSP00000371668:A118V	ENSP00000354917:A118V	A	+	2	0	FAM179B	44501727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.581000	0.53914	2.526000	0.85167	0.655000	0.94253	GCT		0.617	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	0	XM_113781		14:45431977
IL1RN	3557	broad.mit.edu	37	2	113885304	113885304	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:113885304A>T	ENST00000409930.3	+	1	167	c.103A>T	c.(103-105)Atg>Ttg	p.M35L	IL1RN_ENST00000354115.2_Missense_Mutation_p.M17L|IL1RN_ENST00000259206.5_Missense_Mutation_p.M38L|IL1RN_ENST00000361779.3_Start_Codon_SNP_p.M1L|IL1RN_ENST00000409052.1_Start_Codon_SNP_p.M1L	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	35					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	ATCCAGCAAGATGCAAGCCTT	0.562									Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000259206.5		NA																	0				breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10						c.(112-114)Atg>Ttg		interleukin 1 receptor antagonist	Anakinra(DB00026)						72.0	67.0	69.0					2																	113885304		2203	4300	6503	SO:0001583	missense	3557	Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113885304A>T	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.103A>T	2.37:g.113885304A>T	ENSP00000387173:p.Met35Leu	False	False		Somatic	0				IL1RN_ENST00000409930.3_Missense_Mutation_p.M35L|IL1RN_ENST00000361779.3_Start_Codon_SNP_p.M1L|IL1RN_ENST00000354115.2_Missense_Mutation_p.M17L|IL1RN_ENST00000409052.1_Start_Codon_SNP_p.M1L	p.M38L	NM_173841.2	NP_776213.1	WXS	Illumina HiSeq	Phase_I	P18510	IL1RA_HUMAN			3	234	+			35					A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	c.112A>T	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878314	0.51801	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.35973	1.28;1.28;3.02;3.02;3.02	5.24	5.24	0.73138	.	0.361602	0.37809	N	0.001934	T	0.34919	0.0914	M	0.63428	1.95	0.33072	D	0.535518	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.42649	-0.9439	10	0.27785	T	0.31	-24.0838	11.8146	0.52202	1.0:0.0:0.0:0.0	.	35;17;38	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	L	1;1;38;17;35	ENSP00000387210:M1L;ENSP00000354816:M1L;ENSP00000259206:M38L;ENSP00000329072:M17L;ENSP00000387173:M35L	ENSP00000259206:M38L	M	+	1	0	IL1RN	113601775	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.129000	0.57957	2.104000	0.64026	0.533000	0.62120	ATG		0.562	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	0	NM_173841		2:113885304
LOC645166	645166	broad.mit.edu	37	1	148932898	148932898	+	lincRNA	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:148932898C>T	ENST00000539543.1	+	0	154					NR_027355.2																						GCTCAGTCTGCGGCCAAGACT	0.617																																						ENST00000539543.1		NA																	0					NA																																														0							g.chr1:148932898C>T																													1.37:g.148932898C>T		False	False		Somatic	0						NR_027355.2		WXS	Illumina HiSeq	Phase_I					0	154	+			NA						RNA	SNP	ENST00000539543.1	37																																																																																						0.617	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA		0			1:148932898
PEAK1	79834	broad.mit.edu	37	15	77472919	77472919	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:77472919T>C	ENST00000560626.2	-	4	1825	c.1350A>G	c.(1348-1350)atA>atG	p.I450M	PEAK1_ENST00000558305.1_Missense_Mutation_p.I450M|PEAK1_ENST00000312493.4_Missense_Mutation_p.I450M			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	450					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGACAAGGTTTATGGTTACTG	0.463																																						ENST00000560626.2		NA																	0					NA						c.(1348-1350)atA>atG		pseudopodium-enriched atypical kinase 1							202.0	193.0	196.0					15																	77472919		2009	4180	6189	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77472919T>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1350A>G	15.37:g.77472919T>C	ENSP00000452796:p.Ile450Met	True	False		Somatic	0				PEAK1_ENST00000312493.4_Missense_Mutation_p.I450M|PEAK1_ENST00000558305.1_Missense_Mutation_p.I450M	p.I450M			WXS	Illumina HiSeq	Phase_I	Q9H792	PEAK1_HUMAN			4	1825	-			450					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.1350A>G	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.397091	0.42512	.	.	ENSG00000173517	ENST00000312493	T	0.62498	0.02	5.65	-1.59	0.08453	.	0.000000	0.34411	U	0.003990	T	0.56470	0.1987	L	0.27053	0.805	0.36065	D	0.841722	D	0.64830	0.994	P	0.60173	0.87	T	0.59129	-0.7512	10	0.46703	T	0.11	-6.6857	7.1881	0.25811	0.3295:0.0:0.3407:0.3299	.	450	Q9H792	PEAK1_HUMAN	M	450	ENSP00000309230:I450M	ENSP00000309230:I450M	I	-	3	3	AC087465.1	75259974	0.812000	0.29077	0.975000	0.42487	0.917000	0.54804	-0.290000	0.08354	-0.565000	0.06061	0.454000	0.30748	ATA		0.463	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3	0			15:77472919
PLD3	23646	broad.mit.edu	37	19	40882579	40882579	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:40882579C>T	ENST00000409587.1	+	11	1480	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	PLD3_ENST00000409419.1_Silent_p.R361R|PLD3_ENST00000409735.4_Silent_p.R361R|PLD3_ENST00000356508.5_Silent_p.R361R|PLD3_ENST00000409281.1_Silent_p.R361R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	361					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TCAAGGTGCGCCTGCTCATCA	0.642																																						ENST00000409587.1		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1081-1083)cgC>cgT		phospholipase D family, member 3							80.0	73.0	75.0					19																	40882579		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40882579C>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1083C>T	19.37:g.40882579C>T		False	False		Somatic	0				PLD3_ENST00000356508.5_Silent_p.R361R|PLD3_ENST00000409281.1_Silent_p.R361R|PLD3_ENST00000409419.1_Silent_p.R361R|PLD3_ENST00000409735.4_Silent_p.R361R	p.R361R			WXS	Illumina HiSeq	Phase_I	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		11	1480	+			361					Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.1083C>T	CCDS33027.1																																																																																				0.642	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	0	NM_012268		19:40882579
DEFB136	613210	broad.mit.edu	37	8	11831528	11831528	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:11831528G>A	ENST00000382209.2	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	52					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTGGCAGAACGCAATCCACCT	0.458																																						ENST00000382209.2		NA																	0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(154-156)gCg>gTg		defensin, beta 136							196.0	197.0	197.0					8																	11831528		1984	4165	6149	SO:0001583	missense	613210				defense response to bacterium	extracellular region		g.chr8:11831528G>A	DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"""Defensins, beta"""	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.155C>T	8.37:g.11831528G>A	ENSP00000371644:p.Ala52Val	False	False		Somatic	0					p.A52V	NM_001033018.2	NP_001028190.2	WXS	Illumina HiSeq	Phase_I	Q30KP8	DB136_HUMAN	STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)	2	154	-			52					Q4QY36	Missense_Mutation	SNP	ENST00000382209.2	37	c.155C>T	CCDS43709.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122435	0.37436	.	.	ENSG00000205884	ENST00000382209	T	0.17691	2.26	4.06	2.2	0.27929	.	0.810105	0.10785	N	0.634395	T	0.23727	0.0574	.	.	.	0.09310	N	1	D	0.63046	0.992	P	0.52066	0.689	T	0.12016	-1.0564	9	0.66056	D	0.02	0.1607	5.4674	0.16650	0.1106:0.2046:0.6848:0.0	.	52	Q30KP8	DB136_HUMAN	V	52	ENSP00000371644:A52V	ENSP00000371644:A52V	A	-	2	0	DEFB136	11868937	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.184000	0.16939	0.628000	0.30357	0.555000	0.69702	GCG		0.458	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	0	NM_001033018		8:11831528
MAP2K7	5609	broad.mit.edu	37	19	7976364	7976364	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:7976364C>T	ENST00000397979.3	+	9	1034	c.980C>T	c.(979-981)aCg>aTg	p.T327M	MAP2K7_ENST00000545011.1_Missense_Mutation_p.T369M|MAP2K7_ENST00000397983.3_Missense_Mutation_p.T343M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.T334M|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						AACTGCAAGACGGACTTTGAG	0.592																																						ENST00000545011.1		NA																	0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(1105-1107)aCg>aTg		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						42.0	46.0	45.0					19																	7976364		1918	4118	6036	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7976364C>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.980C>T	19.37:g.7976364C>T	ENSP00000381066:p.Thr327Met	False	False		Somatic	0				MAP2K7_ENST00000397979.3_Missense_Mutation_p.T327M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.T334M|MAP2K7_ENST00000397983.3_Missense_Mutation_p.T343M	p.T369M			WXS	Illumina HiSeq	Phase_I	O14733	MP2K7_HUMAN			9	1171	+			327			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.1106C>T	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819928	0.90873	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	4.85	4.85	0.62838	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	0.32164	0.0820	L	0.53780	1.695	0.80722	D	1	D;D	0.61697	0.978;0.99	P;P	0.56751	0.507;0.805	T	0.02156	-1.1204	10	0.87932	D	0	-9.4511	15.8291	0.78739	0.0:1.0:0.0:0.0	.	334;327	O14733-4;O14733	.;MP2K7_HUMAN	M	334;343;369;343;327	ENSP00000381068:T334M;ENSP00000381070:T343M;ENSP00000443946:T369M;ENSP00000381066:T327M	ENSP00000381066:T327M	T	+	2	0	MAP2K7	7882364	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.697000	0.54764	2.675000	0.91044	0.655000	0.94253	ACG		0.592	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1	0			19:7976364
ADAD2	161931	broad.mit.edu	37	16	84229512	84229512	+	Missense_Mutation	SNP	G	G	A	rs142081193	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:84229512G>A	ENST00000315906.5	+	7	1196	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V464M|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	382	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTGTGCTACGTGGCGCCCTC	0.716																																						ENST00000268624.3		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1390-1392)Gtg>Atg		adenosine deaminase domain containing 2							22.0	26.0	24.0					16																	84229512		2198	4298	6496	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229512G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1144G>A	16.37:g.84229512G>A	ENSP00000325153:p.Val382Met	False	False		Somatic	0				RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V382M	p.V464M	NM_139174.3	NP_631913.3	WXS	Illumina HiSeq	Phase_I	Q8NCV1	ADAD2_HUMAN			8	1483	+			382			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1390G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885176	0.33255	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.94280	-3.39;-3.39	5.49	-2.27	0.06846	Adenosine deaminase/editase (2);	0.653207	0.14249	N	0.331597	D	0.86928	0.6051	L	0.53617	1.68	0.31539	N	0.660181	P;P	0.45396	0.857;0.856	B;B	0.33890	0.172;0.114	T	0.81936	-0.0705	10	0.33940	T	0.23	-14.3004	9.5447	0.39273	0.1738:0.6193:0.2068:0.0	.	382;464	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	M	382;464	ENSP00000325153:V382M;ENSP00000268624:V464M	ENSP00000268624:V464M	V	+	1	0	ADAD2	82787013	0.006000	0.16342	0.724000	0.30704	0.475000	0.33008	0.019000	0.13444	-0.237000	0.09739	0.561000	0.74099	GTG		0.716	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	0	NM_139174		16:84229512
ERICH3	127254	broad.mit.edu	37	1	75036840	75036840	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:75036840G>A	ENST00000326665.5	-	14	4772	c.4554C>T	c.(4552-4554)agC>agT	p.S1518S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1518										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCAGTCTCGCTTTCTCCTT	0.493																																						ENST00000326665.5		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4552-4554)agC>agT		chromosome 1 open reading frame 173							187.0	182.0	184.0					1																	75036840		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75036840G>A																												ENST00000326665.5:c.4554C>T	1.37:g.75036840G>A		False	False		Somatic	0				C1orf173_ENST00000433746.2_5'UTR	p.S1518S	NM_001002912.4	NP_001002912.4	WXS	Illumina HiSeq	Phase_I	Q5RHP9	CA173_HUMAN			14	4772	-			1518					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4554C>T	CCDS30755.1																																																																																				0.493	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	0			1:75036840
EXO1	9156	broad.mit.edu	37	1	242030320	242030320	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:242030320C>T	ENST00000366548.3	+	11	1823	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	EXO1_ENST00000518483.1_Silent_p.L410L|EXO1_ENST00000348581.5_Silent_p.L410L	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	410	Interaction with MLH1.		L -> R (abrogates exonuclease activity). {ECO:0000269|PubMed:11375940, ECO:0000269|PubMed:12517792}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTTAAATCTCCCAAGGAAAT	0.408								Editing and processing nucleases																														ENST00000366548.3		NA																	0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(1228-1230)ctC>ctT	Editing and processing nucleases	exonuclease 1							68.0	63.0	65.0					1																	242030320		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242030320C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1230C>T	1.37:g.242030320C>T		True	False		Somatic	0				EXO1_ENST00000518483.1_Silent_p.L410L|EXO1_ENST00000348581.5_Silent_p.L410L	p.L410L	NM_130398.3	NP_569082.2	WXS	Illumina HiSeq	Phase_I	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		11	1823	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	410		L -> R (abrogates exonuclease activity).	Interaction with MLH1.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.1230C>T	CCDS1620.1																																																																																				0.408	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	0	NM_006027		1:242030320
PRR11	55771	broad.mit.edu	37	17	57270942	57270942	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270942C>G	ENST00000262293.4	+	5	804	c.492C>G	c.(490-492)atC>atG	p.I164M		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	164						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCGTTCTGATCACCCCTGGAG	0.537																																						ENST00000262293.4		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16						c.(490-492)atC>atG		proline rich 11							166.0	128.0	141.0					17																	57270942		2203	4300	6503	SO:0001583	missense	55771							g.chr17:57270942C>G		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.492C>G	17.37:g.57270942C>G	ENSP00000262293:p.Ile164Met	False	False		Somatic	0					p.I164M	NM_018304.3	NP_060774.2	WXS	Illumina HiSeq	Phase_I	Q96HE9	PRR11_HUMAN			5	804	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		164					Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	c.492C>G	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	6.692	0.496371	0.12762	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.25	1.87	0.25490	.	0.783614	0.11729	N	0.535099	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.32396	0.369	B	0.35073	0.195	T	0.19063	-1.0317	9	0.44086	T	0.13	-9.65	3.8305	0.08873	0.2002:0.5605:0.1516:0.0877	.	164	Q96HE9	PRR11_HUMAN	M	164	.	ENSP00000262293:I164M	I	+	3	3	PRR11	54625724	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.329000	0.19698	0.165000	0.19558	0.561000	0.74099	ATC		0.537	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	0	NM_018304		17:57270942
RLTPR	146206	broad.mit.edu	37	16	67682804	67682804	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:67682804G>A	ENST00000334583.6	+	17	1846	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	RLTPR_ENST00000545661.1_Silent_p.S470S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	506					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCTGCGCTCGGCCGGCGCCC	0.682																																						ENST00000334583.6		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1516-1518)tcG>tcA		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							33.0	39.0	37.0					16																	67682804		2045	4201	6246	SO:0001819	synonymous_variant	146206							g.chr16:67682804G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1518G>A	16.37:g.67682804G>A		True	False		Somatic	0				RLTPR_ENST00000545661.1_Silent_p.S470S	p.S506S	NM_001013838.1	NP_001013860.1	WXS	Illumina HiSeq	Phase_I	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	17	1846	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	506					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1518G>A	CCDS45513.1																																																																																				0.682	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	0	NM_001013838		16:67682804
PRODH2	58510	broad.mit.edu	37	19	36302895	36302895	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302895T>A	ENST00000301175.3	-	5	811	c.794A>T	c.(793-795)gAg>gTg	p.E265V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	265					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCAGCCTCTCGGGGCTCAG	0.637																																						ENST00000301175.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(793-795)gAg>gTg		proline dehydrogenase (oxidase) 2							51.0	46.0	48.0					19																	36302895		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36302895T>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.794A>T	19.37:g.36302895T>A	ENSP00000301175:p.Glu265Val	False	False		Somatic	0					p.E265V	NM_021232.1	NP_067055.1	WXS	Illumina HiSeq	Phase_I	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	811	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		265						Missense_Mutation	SNP	ENST00000301175.3	37	c.794A>T	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922070	0.52653	.	.	ENSG00000250799	ENST00000301175	T	0.05855	3.38	4.86	3.84	0.44239	.	.	.	.	.	T	0.08758	0.0217	L	0.57536	1.79	0.80722	D	1	B	0.34103	0.437	B	0.38616	0.277	T	0.16630	-1.0396	9	0.33940	T	0.23	.	7.7224	0.28740	0.3387:0.0:0.0:0.6613	.	265	Q9UF12	PROD2_HUMAN	V	265	ENSP00000301175:E265V	ENSP00000301175:E265V	E	-	2	0	PRODH2	40994735	0.997000	0.39634	0.565000	0.28409	0.819000	0.46315	4.364000	0.59479	0.977000	0.38444	0.533000	0.62120	GAG		0.637	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	0	NM_021232		19:36302895
DISC1	27185	broad.mit.edu	37	1	231830151	231830151	+	Missense_Mutation	SNP	C	C	T	rs139420445	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:231830151C>T	ENST00000602281.1	+	2	700	c.647C>T	c.(646-648)tCg>tTg	p.S216L	DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.S216L|DISC1_ENST00000539444.1_Missense_Mutation_p.S216L|DISC1_ENST00000439617.2_Missense_Mutation_p.S216L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.S216L|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S216L|DISC1_ENST00000366636.4_Missense_Mutation_p.S216L|DISC1_ENST00000537876.1_Missense_Mutation_p.S216L	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	216	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATTCGGCTCTCGCTTGGCTCT	0.607																																						ENST00000439617.2		NA																	0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(646-648)tCg>tTg		disrupted in schizophrenia 1		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,,LEU/SER	3,4403	6.2+/-15.9	0,3,2200	49.0	47.0	48.0		647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,,647	3.7	0.1	1	dbSNP_134	48	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,intron,missense	DISC1	NM_001012957.1,NM_001012958.1,NM_001012959.1,NM_001164537.1,NM_001164538.1,NM_001164539.1,NM_001164540.1,NM_001164541.1,NM_001164542.1,NM_001164544.1,NM_001164545.1,NM_001164546.1,NM_001164547.1,NM_001164548.1,NM_001164549.1,NM_001164550.1,NM_001164551.1,NM_001164552.1,NM_001164553.1,NM_001164554.1,NM_001164555.1,NM_001164556.1,NM_018662.2	145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,,145	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	216/833,216/370,216/679,216/887,216/804,216/756,216/733,216/696,216/682,216/663,216/580,216/560,216/560,216/552,216/548,216/430,216/424,216/388,216/388,216/376,216/357,,216/855	231830151	3,13003	2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830151C>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.647C>T	1.37:g.231830151C>T	ENSP00000473425:p.Ser216Leu	False	False		Somatic	0				DISC1_ENST00000317586.4_Missense_Mutation_p.S216L|DISC1_ENST00000366633.3_Missense_Mutation_p.S216L|DISC1_ENST00000366636.4_Missense_Mutation_p.S216L|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S216L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.S216L|DISC1_ENST00000539444.1_Missense_Mutation_p.S216L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.S216L	p.S216L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	WXS	Illumina HiSeq	Phase_I	Q9NRI5	DISC1_HUMAN			2	700	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	216			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.647C>T	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314498	0.40996	6.81E-4	0.0	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.61	3.69	0.42338	.	0.354936	0.29900	N	0.010911	T	0.49406	0.1555	L	0.59436	1.845	0.28799	N	0.898879	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.846;0.998;0.998;0.997;0.998;0.999;0.998;0.998;0.998;0.998;0.933;0.997;0.997;0.998;0.998;0.997;0.997;0.998;0.997;0.997;0.933	T	0.45934	-0.9227	10	0.87932	D	0	-6.3648	11.6928	0.51525	0.0:0.8064:0.1936:0.0	.	216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	L	216;216;216;216;216;216;216;216;216;216;216;216;67	ENSP00000403888:S216L;ENSP00000320784:S216L;ENSP00000355596:S216L;ENSP00000443996:S216L;ENSP00000440909:S216L;ENSP00000355593:S216L;ENSP00000440953:S216L;ENSP00000295051:S216L;ENSP00000441193:S216L	ENSP00000295051:S216L	S	+	2	0	DISC1	229896774	0.940000	0.31905	0.056000	0.19401	0.071000	0.16799	2.506000	0.45433	1.127000	0.42034	0.561000	0.74099	TCG		0.607	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	0	NM_018662		1:231830151
CKMT2	1160	broad.mit.edu	37	5	80550266	80550266	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:80550266G>A	ENST00000424301.2	+	5	641	c.403G>A	c.(403-405)Gac>Aac	p.D135N	CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D135N|CKMT2_ENST00000254035.4_Missense_Mutation_p.D135N|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	135					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CAACGGCTATGACCCCAGGGT	0.532																																						ENST00000424301.2		NA																	0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(403-405)Gac>Aac		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						154.0	139.0	144.0					5																	80550266		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80550266G>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.403G>A	5.37:g.80550266G>A	ENSP00000404203:p.Asp135Asn	False	False		Somatic	0				CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D135N|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D135N	p.D135N	NM_001825.2	NP_001816.2	WXS	Illumina HiSeq	Phase_I	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	5	641	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	135					Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.403G>A	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760757	0.69763	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.61	5.61	0.85477	ATP:guanido phosphotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.69185	2.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.61267	-0.7097	10	0.54805	T	0.06	-10.8422	19.6449	0.95773	0.0:0.0:1.0:0.0	.	135	P17540	KCRS_HUMAN	N	135	ENSP00000254035:D135N;ENSP00000423264:D135N;ENSP00000410289:D135N;ENSP00000404203:D135N;ENSP00000427635:D135N	ENSP00000254035:D135N	D	+	1	0	CKMT2	80586022	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	7.641000	0.83368	2.627000	0.88993	0.563000	0.77884	GAC		0.532	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	0	NM_001825		5:80550266
RSU1	6251	broad.mit.edu	37	10	16794556	16794556	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:16794556C>T	ENST00000377921.3	-	6	881	c.580G>A	c.(580-582)Gtt>Att	p.V194I	RSU1_ENST00000602389.1_Missense_Mutation_p.V141I|RSU1_ENST00000345264.5_Missense_Mutation_p.V194I|RSU1_ENST00000464074.2_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1	194					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GGGGGCAGAACGGTGAGGCGG	0.468																																						ENST00000377921.3		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(580-582)Gtt>Att		Ras suppressor protein 1							110.0	107.0	108.0					10																	16794556		2203	4300	6503	SO:0001583	missense	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16794556C>T	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.580G>A	10.37:g.16794556C>T	ENSP00000367154:p.Val194Ile	False	False		Somatic	0				RSU1_ENST00000345264.5_Missense_Mutation_p.V194I|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_Missense_Mutation_p.V141I	p.V194I			WXS	Illumina HiSeq	Phase_I	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	6	881	-			194					A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	c.580G>A	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212821	0.79352	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.09255	3.0;3.0	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.20610	0.595	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.63703	0.899;0.917	T	0.04017	-1.0984	10	0.42905	T	0.14	-5.5557	18.8996	0.92437	0.0:1.0:0.0:0.0	.	194;194	B0YJ73;Q15404	.;RSU1_HUMAN	I	194;194;141	ENSP00000339521:V194I;ENSP00000367154:V194I	ENSP00000339521:V194I	V	-	1	0	RSU1	16834562	1.000000	0.71417	0.972000	0.41901	0.836000	0.47400	7.456000	0.80751	2.471000	0.83476	0.585000	0.79938	GTT		0.468	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	0	NM_012425, NM_152724		10:16794556
PRAMEF4	400735	broad.mit.edu	37	1	12943068	12943068	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:12943068G>A	ENST00000235349.5	-	2	218	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	50					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R50C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCACAGCGTCTCCTGCTG	0.607																																						ENST00000235349.5		NA																	1	Substitution - Missense(1)	p.R50C(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24						c.(148-150)Cgc>Tgc		PRAME family member 4							43.0	50.0	48.0					1																	12943068		2174	4264	6438	SO:0001583	missense	400735							g.chr1:12943068G>A		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.148C>T	1.37:g.12943068G>A	ENSP00000235349:p.Arg50Cys	False	False		Somatic	0					p.R50C	NM_001009611.2	NP_001009611.1	WXS	Illumina HiSeq	Phase_I	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	218	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	50					Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	c.148C>T	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	g	5.461	0.270195	0.10349	.	.	ENSG00000243073	ENST00000235349	T	0.04970	3.52	1.48	1.48	0.22813	.	0.786987	0.11561	N	0.551731	T	0.05686	0.0149	L	0.38838	1.175	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31110	-0.9955	10	0.54805	T	0.06	.	6.4564	0.21932	0.0:0.0:1.0:0.0	.	50	O60810	PRAM4_HUMAN	C	50	ENSP00000235349:R50C	ENSP00000235349:R50C	R	-	1	0	PRAMEF4	12865655	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.224000	0.17738	1.137000	0.42214	0.400000	0.26472	CGC		0.607	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	0	NM_001009611		1:12943068
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_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
APBA2	321	broad.mit.edu	37	15	29346316	29346316	+	Missense_Mutation	SNP	G	G	A	rs140795962		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:29346316G>A	ENST00000558402.1	+	5	828	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	APBA2_ENST00000558330.1_Missense_Mutation_p.V77M|APBA2_ENST00000558259.1_Missense_Mutation_p.V77M|APBA2_ENST00000561069.1_Missense_Mutation_p.V77M|APBA2_ENST00000411764.1_Missense_Mutation_p.V77M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	77					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCTGACTACGTGAACAACAC	0.637																																						ENST00000558402.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(229-231)Gtg>Atg		amyloid beta (A4) precursor protein-binding, family A, member 2		G	MET/VAL,MET/VAL	0,4406		0,0,2203	115.0	117.0	117.0		229,229	5.2	1.0	15	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	77/738,77/750	29346316	1,13005	2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346316G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.229G>A	15.37:g.29346316G>A	ENSP00000453293:p.Val77Met	False	False		Somatic	0				APBA2_ENST00000558259.1_Missense_Mutation_p.V77M|APBA2_ENST00000561069.1_Missense_Mutation_p.V77M|APBA2_ENST00000558330.1_Missense_Mutation_p.V77M|APBA2_ENST00000411764.1_Missense_Mutation_p.V77M	p.V77M			WXS	Illumina HiSeq	Phase_I	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	828	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	77					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.229G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904297	0.72868	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.52295	0.67	5.25	5.25	0.73442	.	0.145082	0.46145	D	0.000306	T	0.66356	0.2781	M	0.68952	2.095	0.48632	D	0.999683	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.64237	0.923;0.797;0.797	T	0.70099	-0.4965	10	0.87932	D	0	.	17.832	0.88685	0.0:0.0:1.0:0.0	.	77;77;77	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	M	77	ENSP00000409312:V77M	ENSP00000219865:V77M	V	+	1	0	APBA2	27133608	1.000000	0.71417	0.989000	0.46669	0.827000	0.46813	6.796000	0.75145	2.423000	0.82170	0.650000	0.86243	GTG		0.637	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	0	NM_005503		15:29346316
PRODH2	58510	broad.mit.edu	37	19	36303115	36303115	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36303115C>A	ENST00000301175.3	-	4	676	c.659G>T	c.(658-660)gGc>gTc	p.G220V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	220					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGAGGCCCCGTGACAG	0.652																																						ENST00000301175.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(658-660)gGc>gTc		proline dehydrogenase (oxidase) 2							52.0	57.0	55.0					19																	36303115		2203	4299	6502	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303115C>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.659G>T	19.37:g.36303115C>A	ENSP00000301175:p.Gly220Val	True	False		Somatic	0					p.G220V	NM_021232.1	NP_067055.1	WXS	Illumina HiSeq	Phase_I	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	676	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		220						Missense_Mutation	SNP	ENST00000301175.3	37	c.659G>T	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	1.117	-0.656468	0.03480	.	.	ENSG00000250799	ENST00000301175	T	0.27557	1.66	4.85	-0.471	0.12119	.	.	.	.	.	T	0.21962	0.0529	L	0.51422	1.61	0.20307	N	0.999911	B	0.27625	0.183	B	0.22386	0.039	T	0.25502	-1.0130	9	0.54805	T	0.06	.	2.2746	0.04099	0.1245:0.4534:0.1295:0.2926	.	220	Q9UF12	PROD2_HUMAN	V	220	ENSP00000301175:G220V	ENSP00000301175:G220V	G	-	2	0	PRODH2	40994955	0.521000	0.26258	0.004000	0.12327	0.020000	0.10135	0.698000	0.25571	-0.384000	0.07845	-0.797000	0.03246	GGC		0.652	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	0	NM_021232		19:36303115
KDM5B	10765	broad.mit.edu	37	1	202714993	202714993	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:202714993C>T	ENST00000367265.3	-	16	3480	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K	KDM5B_ENST00000367264.2_Silent_p.K808K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	772					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TACTTTTCTTCTTGTTGATCT	0.383																																						ENST00000367265.3		NA																	0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2314-2316)aaG>aaA		lysine (K)-specific demethylase 5B							163.0	150.0	155.0					1																	202714993		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202714993C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2316G>A	1.37:g.202714993C>T		False	False		Somatic	0				KDM5B_ENST00000367264.2_Silent_p.K808K	p.K772K	NM_006618.3	NP_006609.3	WXS	Illumina HiSeq	Phase_I	Q9UGL1	KDM5B_HUMAN			16	3480	-			772					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.2316G>A	CCDS30974.1																																																																																				0.383	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	0	NM_006618		1:202714993
CCDC116	164592	broad.mit.edu	37	22	21991276	21991276	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:21991276G>T	ENST00000292779.3	+	5	1920	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TGAGGGCCGTGATAAAGCCGA	0.557																																						ENST00000292779.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(1759-1761)Gat>Tat		coiled-coil domain containing 116							62.0	55.0	57.0					22																	21991276		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21991276G>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1759G>T	22.37:g.21991276G>T	ENSP00000292779:p.Asp587Tyr	False	False		Somatic	0					p.D587Y	NM_152612.2	NP_689825.2	WXS	Illumina HiSeq	Phase_I	Q8IYX3	CC116_HUMAN			5	1920	+	Colorectal(54;0.105)		0					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.1759G>T	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360852	0.24598	.	.	ENSG00000161180	ENST00000292779	T	0.12255	2.7	3.35	2.3	0.28687	.	3.410210	0.00674	N	0.000657	T	0.25195	0.0612	.	.	.	0.09310	N	1	D	0.60160	0.987	P	0.52217	0.693	T	0.13602	-1.0503	9	0.62326	D	0.03	-3.8567	8.4003	0.32581	0.0:0.2736:0.7264:0.0	.	587	Q8IYX3-2	.	Y	587	ENSP00000292779:D587Y	ENSP00000292779:D587Y	D	+	1	0	CCDC116	20321276	0.019000	0.18553	0.002000	0.10522	0.004000	0.04260	1.152000	0.31663	0.706000	0.31912	0.491000	0.48974	GAT		0.557	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	0	NM_152612		22:21991276
CHAT	1103	broad.mit.edu	37	10	50833616	50833616	+	Missense_Mutation	SNP	G	G	A	rs146236256		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:50833616G>A	ENST00000337653.2	+	6	1003	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CHAT_ENST00000351556.3_Missense_Mutation_p.G166S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S|CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S|CHAT_ENST00000395562.2_Missense_Mutation_p.G202S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	284					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCGGCTCCCCGGCCATACCCA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20696	0.0		0.0	False		,,,				2504	0.001					ENST00000395562.2		NA																	0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(604-606)Ggc>Agc		choline O-acetyltransferase	Choline(DB00122)	G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	46.0	35.0	38.0		496,604,496,850,496,496,496	5.2	0.8	10	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	56,56,56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	166/631,202/667,166/631,284/749,166/631,166/631,166/631	50833616	1,13005	2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50833616G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.850G>A	10.37:g.50833616G>A	ENSP00000337103:p.Gly284Ser	True	False		Somatic	0				CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S|CHAT_ENST00000337653.2_Missense_Mutation_p.G284S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S	p.G202S	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	WXS	Illumina HiSeq	Phase_I	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	7	1073	+		all_neural(218;0.107)	284					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.604G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486814	0.84854	0.0	1.16E-4	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.975;0.981	D	0.97201	0.9864	10	0.87932	D	0	-30.9801	18.8	0.92013	0.0:0.0:1.0:0.0	.	166;284	F8W8I2;P28329	.;CLAT_HUMAN	S	166;166;166;284;202;166	ENSP00000343486:G166S;ENSP00000345878:G166S;ENSP00000378926:G166S;ENSP00000337103:G284S;ENSP00000378929:G202S;ENSP00000390521:G166S	ENSP00000337103:G284S	G	+	1	0	CHAT	50503622	1.000000	0.71417	0.836000	0.33094	0.196000	0.23810	9.852000	0.99516	2.439000	0.82584	0.411000	0.27672	GGC		0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	0	NM_020549		10:50833616
PRODH2	58510	broad.mit.edu	37	19	36302896	36302896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302896C>A	ENST00000301175.3	-	5	810	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	265					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCAGCCTCTCGGGGCTCAGC	0.637																																						ENST00000301175.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(793-795)Gag>Tag		proline dehydrogenase (oxidase) 2							51.0	46.0	48.0					19																	36302896		2203	4300	6503	SO:0001587	stop_gained	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36302896C>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.793G>T	19.37:g.36302896C>A	ENSP00000301175:p.Glu265*	True	False		Somatic	0					p.E265*	NM_021232.1	NP_067055.1	WXS	Illumina HiSeq	Phase_I	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	810	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		265						Nonsense_Mutation	SNP	ENST00000301175.3	37	c.793G>T	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398174	0.96030	.	.	ENSG00000250799	ENST00000301175	.	.	.	4.86	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	10.2938	0.43612	0.0:0.8654:0.0:0.1346	.	.	.	.	X	265	.	ENSP00000301175:E265X	E	-	1	0	PRODH2	40994736	0.346000	0.24844	0.463000	0.27130	0.810000	0.45777	1.290000	0.33319	0.785000	0.33685	0.655000	0.94253	GAG		0.637	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	0	NM_021232		19:36302896
PRR11	55771	broad.mit.edu	37	17	57270937	57270937	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270937C>T	ENST00000262293.4	+	5	799	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	163						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCCTGCGTTCTGATCACCCC	0.532																																						ENST00000262293.4		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16						c.(487-489)Ctg>Ttg		proline rich 11							166.0	129.0	142.0					17																	57270937		2203	4300	6503	SO:0001819	synonymous_variant	55771							g.chr17:57270937C>T		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.487C>T	17.37:g.57270937C>T		False	False		Somatic	0					p.L163L	NM_018304.3	NP_060774.2	WXS	Illumina HiSeq	Phase_I	Q96HE9	PRR11_HUMAN			5	799	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		163					Q9NUZ7|Q9NXE9	Silent	SNP	ENST00000262293.4	37	c.487C>T	CCDS11614.1																																																																																				0.532	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	0	NM_018304		17:57270937
SEPSECS	51091	broad.mit.edu	37	4	25158572	25158572	+	Silent	SNP	G	G	A	rs377253617		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:25158572G>A	ENST00000382103.2	-	3	366	c.294C>T	c.(292-294)tcC>tcT	p.S98S	SEPSECS_ENST00000302922.3_Silent_p.S19S	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	98	Phosphate loop (P-loop).			S -> P (in Ref. 8; AAG00491). {ECO:0000305}.	selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				AAATATCACCGGATCGTCCAA	0.398																																						ENST00000382103.2		NA																	0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(292-294)tcC>tcT		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Pyridoxal Phosphate(DB00114)	G		1,4405	2.1+/-5.4	0,1,2202	96.0	95.0	95.0		294	-10.2	0.4	4		95	1,8599		0,1,4299	no	coding-synonymous	SEPSECS	NM_016955.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		98/502	25158572	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25158572G>A	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.294C>T	4.37:g.25158572G>A		False	False		Somatic	0				SEPSECS_ENST00000302922.3_Silent_p.S19S	p.S98S	NM_016955.3	NP_058651.3	WXS	Illumina HiSeq	Phase_I	Q9HD40	SPCS_HUMAN			3	366	-		Breast(46;0.173)	98	S -> P (in Ref. 8; AAG00491).				A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	c.294C>T	CCDS3432.2																																																																																				0.398	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	0	NM_016955		4:25158572
PRL	5617	broad.mit.edu	37	6	22294688	22294688	+	Missense_Mutation	SNP	C	C	T	rs569915370		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:22294688C>T	ENST00000306482.1	-	2	672	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	52					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGGACAGGACGACGGCGCGG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14406	0.0		0.0	False		,,,				2504	0.0					ENST00000306482.1		NA																	0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(154-156)Gtc>Atc		prolactin							100.0	91.0	94.0					6																	22294688		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22294688C>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.154G>A	6.37:g.22294688C>T	ENSP00000302150:p.Val52Ile	False	False		Somatic	0				RP3-404K8.2_ENST00000561912.1_RNA	p.V52I	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	WXS	Illumina HiSeq	Phase_I	P01236	PRL_HUMAN			2	672	-	Ovarian(93;0.163)		52					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.154G>A	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996710	0.35226	.	.	ENSG00000172179	ENST00000306482	D	0.88741	-2.42	5.85	0.828	0.18841	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.538216	0.21188	N	0.078687	T	0.49795	0.1578	N	0.02854	-0.475	0.19945	N	0.999948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52495	-0.8568	10	0.28530	T	0.3	0.6696	5.8852	0.18878	0.0:0.2086:0.129:0.6624	.	52;53	P01236;Q5I0G2	PRL_HUMAN;.	I	52	ENSP00000302150:V52I	ENSP00000302150:V52I	V	-	1	0	PRL	22402667	0.999000	0.42202	0.922000	0.36590	0.815000	0.46073	0.547000	0.23299	0.122000	0.18314	-0.471000	0.05019	GTC		0.582	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	0	NM_000948		6:22294688
SKP2	6502	broad.mit.edu	37	5	36170522	36170522	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:36170522A>G	ENST00000274255.6	+	6	944	c.748A>G	c.(748-750)Act>Gct	p.T250A	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Missense_Mutation_p.T36A|SKP2_ENST00000274254.5_Missense_Mutation_p.T250A	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCCTGCAGACTTTGCTAAG	0.383																																						ENST00000274255.6		NA																	0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(748-750)Act>Gct		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							104.0	99.0	100.0					5																	36170522		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36170522A>G	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.748A>G	5.37:g.36170522A>G	ENSP00000274255:p.Thr250Ala	False	False		Somatic	0				SKP2_ENST00000274254.5_Missense_Mutation_p.T250A|SKP2_ENST00000546211.1_Missense_Mutation_p.T36A|SKP2_ENST00000508514.1_Intron	p.T250A	NM_005983.3	NP_005974.2	WXS	Illumina HiSeq	Phase_I	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	944	+	all_lung(31;5.63e-05)		250					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.748A>G	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828751	0.16749	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151;ENST00000546211	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.53	3.19	0.36642	.	0.419284	0.28365	N	0.015605	T	0.31199	0.0789	L	0.37507	1.11	0.24045	N	0.996061	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.24083	-1.0170	10	0.07644	T	0.81	-7.1949	8.9256	0.35639	0.8857:0.0:0.1143:0.0	.	36;250;250	B4DJT4;Q13309-2;Q13309	.;.;SKP2_HUMAN	A	250;250;216;205;36	ENSP00000274254:T250A;ENSP00000274255:T250A;ENSP00000423188:T205A;ENSP00000443492:T36A	ENSP00000274254:T250A	T	+	1	0	SKP2	36206279	0.702000	0.27816	0.988000	0.46212	0.883000	0.51084	1.206000	0.32321	0.546000	0.28920	0.533000	0.62120	ACT		0.383	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	0	NM_005983		5:36170522
PCDHA3	56145	broad.mit.edu	37	5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617																																						ENST00000522353.2		NA																	0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(193-195)Cgg>Tgg									57.0	70.0	66.0					5																	140180975		2203	4294	6497	SO:0001583	missense	0							g.chr5:140180975C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.193C>T	5.37:g.140180975C>T	ENSP00000429808:p.Arg65Trp	True	False		Somatic	0				PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	p.R65W	NM_018906.2	NP_061729.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+			NA					O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.193C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.980912	0.74474	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38887	1.11;1.11	4.48	3.58	0.41010	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.37955	U	0.001876	T	0.78130	0.4235	H	0.99117	4.435	0.40488	D	0.980514	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.87025	0.2131	10	0.87932	D	0	.	13.635	0.62217	0.1614:0.8386:0.0:0.0	.	65;65	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	W	65	ENSP00000429808:R65W;ENSP00000434086:R65W	ENSP00000429808:R65W	R	+	1	2	PCDHA3	140161159	0.994000	0.37717	1.000000	0.80357	0.978000	0.69477	3.208000	0.51114	0.963000	0.38082	0.586000	0.80456	CGG		0.617	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	0	NM_018906		5:140180975
GABRG2	2566	broad.mit.edu	37	5	161576159	161576159	+	Missense_Mutation	SNP	G	G	A	rs397514737		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:161576159G>A	ENST00000361925.4	+	8	1188	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	GABRG2_ENST00000414552.2_Missense_Mutation_p.R363Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.R228Q|GABRG2_ENST00000356592.3_Missense_Mutation_p.R323Q			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	323					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACCATTGCCCGGAAATCGCTC	0.473																																						ENST00000356592.3		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(967-969)cGg>cAg		gamma-aminobutyric acid (GABA) A receptor, gamma 2							231.0	187.0	202.0					5																	161576159		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161576159G>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.968G>A	5.37:g.161576159G>A	ENSP00000354651:p.Arg323Gln	True	False		Somatic	0				GABRG2_ENST00000393933.4_Missense_Mutation_p.R228Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R363Q|GABRG2_ENST00000361925.4_Missense_Mutation_p.R323Q	p.R323Q	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	WXS	Illumina HiSeq	Phase_I	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	8	1428	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	323					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.968G>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909224	0.97093	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.88	5.88	0.94601	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92789	0.7707	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.954;0.969	D	0.92716	0.6187	10	0.87932	D	0	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	363;323;323	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	Q	323;363;323;228	ENSP00000349000:R323Q;ENSP00000410732:R363Q;ENSP00000354651:R323Q;ENSP00000377510:R228Q	ENSP00000349000:R323Q	R	+	2	0	GABRG2	161508737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.751000	0.98889	2.779000	0.95612	0.650000	0.86243	CGG		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1	0			5:161576159
OR1D2	4991	broad.mit.edu	37	17	2996105	2996105	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:2996105G>A	ENST00000331459.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	62					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTTGGCCAGGAAGAAGTACA	0.537																																						ENST00000331459.1		NA																	0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(184-186)ttC>ttT		olfactory receptor, family 1, subfamily D, member 2							153.0	150.0	151.0					17																	2996105		2203	4300	6503	SO:0001819	synonymous_variant	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2996105G>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.186C>T	17.37:g.2996105G>A		False	False		Somatic	0					p.F62F	NM_002548.2	NP_002539.2	WXS	Illumina HiSeq	Phase_I	P34982	OR1D2_HUMAN			1	185	-			62					Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	37	c.186C>T	CCDS11019.1																																																																																				0.537	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	0	NM_002548		17:2996105
SLC16A10	117247	broad.mit.edu	37	6	111498424	111498424	+	Missense_Mutation	SNP	G	G	C	rs537548710		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:111498424G>C	ENST00000368851.5	+	3	673	c.498G>C	c.(496-498)gaG>gaC	p.E166D	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	166					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GTTCCATCGAGCCTCTGTACC	0.398																																						ENST00000368851.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(496-498)gaG>gaC		solute carrier family 16 (aromatic amino acid transporter), member 10							71.0	74.0	73.0					6																	111498424		2203	4300	6503	SO:0001583	missense	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111498424G>C	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.498G>C	6.37:g.111498424G>C	ENSP00000357844:p.Glu166Asp	False	False		Somatic	0				SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	p.E166D	NM_018593.4	NP_061063.2	WXS	Illumina HiSeq	Phase_I	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	3	673	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	166					B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	37	c.498G>C	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.897900|1.897900	0.33535|0.33535	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.37058|.	1.22|.	5.22|5.22	2.37|2.37	0.29283|0.29283	Major facilitator superfamily domain, general substrate transporter (1);|.	0.144833|.	0.64402|.	N|.	0.000008|.	T|T	0.43500|0.43500	0.1250|0.1250	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	P;D|.	0.56521|.	0.786;0.976|.	P;P|.	0.62298|.	0.76;0.9|.	T|T	0.42447|0.42447	-0.9451|-0.9451	10|5	0.19147|.	T|.	0.46|.	.|.	4.3484|4.3484	0.11143|0.11143	0.2966:0.0:0.542:0.1614|0.2966:0.0:0.542:0.1614	.|.	166;166|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	D|T	166;166;57|52	ENSP00000357844:E166D|.	ENSP00000357844:E166D|.	E|S	+|+	3|2	2|0	SLC16A10|SLC16A10	111605117|111605117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.672000|0.672000	0.25187|0.25187	0.653000|0.653000	0.30826|0.30826	0.563000|0.563000	0.77884|0.77884	GAG|AGC		0.398	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2	0			6:111498424
MYLK	4638	broad.mit.edu	37	3	123383037	123383037	+	Silent	SNP	C	C	T	rs563116446		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:123383037C>T	ENST00000475616.1	-	20	3899	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000360772.3_Silent_p.A1300A|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000346322.5_Silent_p.A1231A			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685). {ECO:0000305}.	actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCCTGGCGCGCGGCCAGGA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19042	0.0		0.001	False		,,,				2504	0.0					ENST00000360772.3		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3898-3900)gcG>gcA		myosin light chain kinase							136.0	130.0	132.0					3																	123383037		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383037C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3900G>A	3.37:g.123383037C>T		True	False		Somatic	0				MYLK_ENST00000475616.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000346322.5_Silent_p.A1231A	p.A1300A			WXS	Illumina HiSeq	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4278	-		Lung NSC(201;0.0496)	1300	A -> G (in Ref. 1; CAA59685).		Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3900G>A	CCDS46896.1																																																																																				0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	NM_053025		3:123383037
MYO1G	64005	broad.mit.edu	37	7	45003667	45003667	+	Missense_Mutation	SNP	C	C	T	rs370778515		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:45003667C>T	ENST00000258787.7	-	20	2862	c.2726G>A	c.(2725-2727)cGg>cAg	p.R909Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	909	Myosin tail. {ECO:0000255}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGCACGGCCCGCATCACCCG	0.637																																						ENST00000258787.7		NA																	0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(2725-2727)cGg>cAg		myosin IG		C	GLN/ARG	1,4393		0,1,2196	62.0	55.0	57.0		2726	4.2	1.0	7		57	0,8600		0,0,4300	no	missense	MYO1G	NM_033054.2	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	909/1019	45003667	1,12993	2197	4300	6497	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45003667C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2726G>A	7.37:g.45003667C>T	ENSP00000258787:p.Arg909Gln	True	False		Somatic	0					p.R909Q	NM_033054.2	NP_149043.2	WXS	Illumina HiSeq	Phase_I	B0I1T2	MYO1G_HUMAN			20	2862	-			909					Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.2726G>A	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962493	0.74016	2.28E-4	0.0	ENSG00000136286	ENST00000258787	T	0.39056	1.1	4.24	4.24	0.50183	Myosin tail 2 (1);	0.000000	0.33792	N	0.004548	T	0.32194	0.0821	M	0.62016	1.91	0.35794	D	0.82262	P	0.38677	0.642	B	0.26416	0.069	T	0.41875	-0.9484	10	0.15952	T	0.53	.	12.0407	0.53452	0.0:0.8248:0.1752:0.0	.	909	B0I1T2	MYO1G_HUMAN	Q	909	ENSP00000258787:R909Q	ENSP00000258787:R909Q	R	-	2	0	MYO1G	44970192	0.998000	0.40836	0.994000	0.49952	0.695000	0.40330	3.509000	0.53386	2.286000	0.76751	0.655000	0.94253	CGG		0.637	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2	0			7:45003667
MSRB3	253827	broad.mit.edu	37	12	65857005	65857005	+	Missense_Mutation	SNP	C	C	T	rs267603630		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:65857005C>T	ENST00000355192.3	+	6	608	c.482C>T	c.(481-483)tCg>tTg	p.S161L	MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L|MSRB3_ENST00000308259.5_Missense_Mutation_p.S154L	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	161					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.S161L(1)|p.S154L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCATAAATTCGGCTGCCTTG	0.547																																						ENST00000308259.5		NA																	2	Substitution - Missense(2)	p.S161L(1)|p.S154L(1)	large_intestine(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(460-462)tCg>tTg		methionine sulfoxide reductase B3							147.0	130.0	136.0					12																	65857005		2203	4300	6503	SO:0001583	missense	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65857005C>T	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.482C>T	12.37:g.65857005C>T	ENSP00000347324:p.Ser161Leu	False	False		Somatic	0				MSRB3_ENST00000355192.3_Missense_Mutation_p.S161L|MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L	p.S154L	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	WXS	Illumina HiSeq	Phase_I	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	7	735	+			161					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.461C>T	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393034	0.96009	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96448	0.9332	9	.	.	.	-2.9871	20.3325	0.98724	0.0:1.0:0.0:0.0	.	161;154	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	L	161;154;154;154	ENSP00000347324:S161L;ENSP00000312274:S154L;ENSP00000441650:S154L;ENSP00000445843:S154L	.	S	+	2	0	MSRB3	64143272	1.000000	0.71417	0.196000	0.23383	0.071000	0.16799	6.792000	0.75125	2.890000	0.99128	0.655000	0.94253	TCG		0.547	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	0	NM_198080		12:65857005
NUDT2	318	broad.mit.edu	37	9	34343390	34343390	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:34343390G>T	ENST00000379158.2	+	5	754	c.396G>T	c.(394-396)aaG>aaT	p.K132N	NUDT2_ENST00000346365.4_Missense_Mutation_p.K132N|NUDT2_ENST00000379155.5_Missense_Mutation_p.K132N	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	132	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGGAGATGAAGGCAGCGCTCC	0.567																																					Melanoma(95;1683 1957 4276 39813)	ENST00000379158.2		NA																	0				lung(3)	3						c.(394-396)aaG>aaT		nudix (nucleoside diphosphate linked moiety X)-type motif 2							41.0	41.0	41.0					9																	34343390		2203	4300	6503	SO:0001583	missense	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34343390G>T	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"""Nudix motif containing"""	8049	protein-coding gene	gene with protein product	"""Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine tetraphosphatase"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"""	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.396G>T	9.37:g.34343390G>T	ENSP00000368455:p.Lys132Asn	False	False		Somatic	0				NUDT2_ENST00000346365.4_Missense_Mutation_p.K132N|NUDT2_ENST00000379155.5_Missense_Mutation_p.K132N	p.K132N	NM_001161.4	NP_001152.1	WXS	Illumina HiSeq	Phase_I	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	5	754	+			132			Nudix hydrolase.		D3DRM0|Q5T589	Missense_Mutation	SNP	ENST00000379158.2	37	c.396G>T	CCDS6552.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382081	0.42207	.	.	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	T;T;T	0.08458	3.09;3.09;3.09	5.88	4.99	0.66335	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.205060	0.56097	D	0.000038	T	0.11665	0.0284	L	0.55481	1.735	0.51233	D	0.999916	B	0.26483	0.15	B	0.34536	0.185	T	0.03969	-1.0988	10	0.56958	D	0.05	-18.5143	9.5184	0.39120	0.1987:0.0:0.8013:0.0	.	132	P50583	AP4A_HUMAN	N	132	ENSP00000368452:K132N;ENSP00000344187:K132N;ENSP00000368455:K132N	ENSP00000338397:K132N	K	+	3	2	NUDT2	34333390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.713000	0.61895	1.509000	0.48786	0.561000	0.74099	AAG		0.567	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	0	NM_001161		9:34343390
GPR15	2838	broad.mit.edu	37	3	98251438	98251438	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:98251438G>C	ENST00000284311.3	+	1	696	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	187					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.K187N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAGAAAAAGGCAACTCCAA	0.473																																						ENST00000284311.3		NA																	1	Substitution - Missense(1)	p.K187N(1)	lung(1)	endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(559-561)aaG>aaC		G protein-coupled receptor 15							149.0	135.0	140.0					3																	98251438		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251438G>C		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.561G>C	3.37:g.98251438G>C	ENSP00000284311:p.Lys187Asn	True	False		Somatic	0					p.K187N	NM_005290.1	NP_005281.1	WXS	Illumina HiSeq	Phase_I	P49685	GPR15_HUMAN		Lung(72;0.246)	1	696	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	187					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.561G>C	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.809317	0.00606	.	.	ENSG00000154165	ENST00000284311	T	0.39592	1.07	4.74	-5.96	0.02234	GPCR, rhodopsin-like superfamily (1);	1.101080	0.06952	N	0.814708	T	0.25158	0.0611	N	0.24115	0.695	0.09310	N	1	B	0.26147	0.143	B	0.24394	0.053	T	0.22765	-1.0207	10	0.27082	T	0.32	-0.0397	10.5559	0.45117	0.7354:0.1051:0.1594:0.0	.	187	P49685	GPR15_HUMAN	N	187	ENSP00000284311:K187N	ENSP00000284311:K187N	K	+	3	2	GPR15	99734128	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.676000	0.01946	-1.282000	0.02396	-0.982000	0.02568	AAG		0.473	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1	0			3:98251438
MTG2	26164	broad.mit.edu	37	20	60774235	60774235	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr20:60774235G>A	ENST00000370823.3	+	6	766	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	MTG2_ENST00000536470.1_Missense_Mutation_p.A22T|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	250	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										CGCCAGACCCGCCGTGGCTTC	0.622																																						ENST00000370823.3		NA																	0					NA						c.(748-750)Gcc>Acc		mitochondrial ribosome-associated GTPase 2							51.0	51.0	51.0					20																	60774235		2203	4300	6503	SO:0001583	missense	26164							g.chr20:60774235G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.748G>A	20.37:g.60774235G>A	ENSP00000359859:p.Ala250Thr	True	False		Somatic	0				MTG2_ENST00000536470.1_Missense_Mutation_p.A22T|MTG2_ENST00000436421.2_Intron	p.A250T	NM_015666.3	NP_056481.1	WXS	Illumina HiSeq	Phase_I					6	766	+			NA					A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.748G>A	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697382	0.30142	.	.	ENSG00000101181	ENST00000536470;ENST00000370823	T;T	0.17054	2.3;2.3	5.67	2.67	0.31697	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.094504	0.64402	N	0.000001	T	0.13543	0.0328	L	0.28458	0.855	0.58432	D	0.999997	B	0.20780	0.048	B	0.19391	0.025	T	0.06250	-1.0837	10	0.66056	D	0.02	-12.2409	12.1781	0.54196	0.1454:0.0:0.8546:0.0	.	250	Q9H4K7	GTPB5_HUMAN	T	22;250	ENSP00000445056:A22T;ENSP00000359859:A250T	ENSP00000359859:A250T	A	+	1	0	GTPBP5	60207630	1.000000	0.71417	0.011000	0.14972	0.025000	0.11179	4.508000	0.60441	0.339000	0.23719	0.561000	0.74099	GCC		0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	0	NM_015666		20:60774235
CCDC61	729440	broad.mit.edu	37	19	46506729	46506729	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:46506729C>T	ENST00000595358.1	+	3	250	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CCDC61_ENST00000263284.2_Silent_p.F124F|CCDC61_ENST00000594087.1_Silent_p.F67F|CCDC61_ENST00000536603.1_Silent_p.F67F	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	67						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TCAACATCTTCTGTCATATGC	0.567																																						ENST00000263284.2		NA																	0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(370-372)ttC>ttT		coiled-coil domain containing 61							46.0	48.0	47.0					19																	46506729		2050	4224	6274	SO:0001819	synonymous_variant	729440							g.chr19:46506729C>T		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.201C>T	19.37:g.46506729C>T		False	False		Somatic	0				CCDC61_ENST00000595358.1_Silent_p.F67F|CCDC61_ENST00000594087.1_Silent_p.F67F|CCDC61_ENST00000536603.1_Silent_p.F67F	p.F124F			WXS	Illumina HiSeq	Phase_I				OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)	4	372	+		all_neural(266;0.113)|Ovarian(192;0.127)	NA					C8CAP4|Q9HDB6	Silent	SNP	ENST00000595358.1	37	c.372C>T	CCDS46120.2																																																																																				0.567	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	0	NM_001080402		19:46506729
BAGE2	85319	broad.mit.edu	37	21	11058247	11058247	+	RNA	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr21:11058247G>A	ENST00000470054.1	-	0	400							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCAGCACAAGGATAATGATA	0.433																																						ENST00000470054.1		NA																	0					NA								B melanoma antigen family, member 2							81.0	67.0	71.0					21																	11058247		692	1591	2283			85319							g.chr21:11058247G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058247G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	400	-			NA					A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	NM_182482		21:11058247
