#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
SKA3	221150	broad.mit.edu	37	13	21734128	21734133	+	Splice_Site	DEL	TAAAAG	TAAAAG	-			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	TAAAAG	TAAAAG	-	-	TAAAAG	TAAAAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr13:21734128_21734133delTAAAAG	ENST00000314759.5	-	6	954		c.e6-2		SKA3_ENST00000400018.3_Splice_Site	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)		p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTCGGCATCTAAAAGACACATAAAA	0.32																																						ENST00000400018.3		NA																	1	Unknown(1)	p.?(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.e6-2		spindle and kinetochore associated complex subunit 3																																				SO:0001630	splice_region_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21734128_21734133delTAAAAG	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.830-2CTTTTA>-	13.37:g.21734128_21734133delTAAAAG		True	False		Somatic	1				SKA3_ENST00000314759.5_Splice_Site		NM_001166017.1	NP_001159489.1	WXS	Illumina HiSeq	Phase_I	Q8IX90	SKA3_HUMAN			6	899	-			NA					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Splice_Site	DEL	ENST00000314759.5	37		CCDS31946.1																																																																																				0.320	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	0	NM_145061	Intron	13:21734128
MUC1	4582	broad.mit.edu	37	1	155160784	155160793	+	Frame_Shift_Del	DEL	GAGGAGGTGA	GAGGAGGTGA	-	rs201308716		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	GAGGAGGTGA	GAGGAGGTGA	-	-	GAGGAGGTGA	GAGGAGGTGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:155160784_155160793delGAGGAGGTGA	ENST00000368395.1	-	3	805_814	c.734_743delTCACCTCCTC	c.(733-744)ctcacctcctccfs	p.LTSS245fs	MUC1_ENST00000337604.5_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368393.3_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000338684.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1025	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.				cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGTGATTGGAGGAGGTGAGAGGAGGTAC	0.495			T	IGH@	B-NHL																																	ENST00000368395.1		NA		Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(733-744)ctcacctcctccfs		mucin 1, cell surface associated																																				SO:0001589	frameshift_variant	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155160784_155160793delGAGGAGGTGA	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.734_743delTCACCTCCTC	1.37:g.155160784_155160793delGAGGAGGTGA	ENSP00000357380:p.Leu245fs	False	False		Somatic	1				MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000337604.5_Intron	p.LTSS245fs	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	WXS	Illumina HiSeq	Phase_I	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	805_814	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		1025			42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Frame_Shift_Del	DEL	ENST00000368395.1	37	c.734_743delTCACCTCCTC	CCDS55640.1																																																																																				0.495	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	0	NM_002456		1:155160784
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316																																						ENST00000367618.3		NA																	1	Deletion - In frame(1)	p.E991_Q992delEQ(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2968-2976)gaagaacaa>gaa		axonemal dynein light chain domain containing 1				750,3386		64,622,1382						-7.3	0.0		dbSNP_131	50	2737,5481		321,2095,1693	no	coding	AXDND1	NM_144696.4		385,2717,3075	A1A1,A1R,RR		33.3049,18.1335,28.2257				3487,8867				SO:0001651	inframe_deletion	126859							g.chr1:179504035_179504040delAAGAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2969_2974delAAGAAC	1.37:g.179504035_179504040delAAGAAC	ENSP00000356590:p.Glu991_Gln992del	True	False		Somatic	1					p.EQ991del	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			25	3356_3361	+			991		E -> Q (in dbSNP:rs6425573).	Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	c.2969_2974delAAGAAC	CCDS30948.1																																																																																				0.316	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179504035
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
RNF123	63891	broad.mit.edu	37	3	49725275	49725279	+	5'Flank	DEL	GTGCT	GTGCT	-	rs370878670		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	GTGCT	GTGCT	-	-	GTGCT	GTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:49725275_49725279delGTGCT	ENST00000327697.6	+	0	0				MST1_ENST00000449682.2_Frame_Shift_Del_p.QH49fs|RNF123_ENST00000432042.1_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATGTAGCAGGTGCTGTAGCTCTGT	0.61																																						ENST00000449682.2		NA																	0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(145-150)cagcacfs		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725275_49725279delGTGCT	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725275_49725279delGTGCT	Exception_encountered	False	False		Somatic	1				MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000383728.3_Intron|MST1_ENST00000494828.2_Intron	p.QH49fs	NM_020998.3	NP_066278.3	WXS	Illumina HiSeq	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	507_511	-			35			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Del	DEL	ENST00000327697.6	37	c.146_150delAGCAC	CCDS33758.1																																																																																				0.610	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	0	NM_022064		3:49725275
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	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
GRHL2	79977	broad.mit.edu	37	8	102649148	102649149	+	Frame_Shift_Ins	INS	-	-	CTCT			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:102649148_102649149insCTCT	ENST00000251808.3	+	12	1847_1848	c.1509_1510insCTCT	c.(1510-1512)cgafs	p.R504fs	GRHL2_ENST00000517674.1_3'UTR|GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.R488fs	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	504					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CGGATGATGAACGAGAAGGGTA	0.421																																						ENST00000251808.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1510-1512)cgafs		grainyhead-like 2 (Drosophila)																																				SO:0001589	frameshift_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102649148_102649149insCTCT	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	Exception_encountered	8.37:g.102649148_102649149insCTCT	ENSP00000251808:p.Arg504fs	False	False		Somatic	0				GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.R488fs|GRHL2_ENST00000517674.1_3'UTR	p.R504fs	NM_024915.3	NP_079191.2	WXS	Illumina HiSeq	Phase_I	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		12	1847_1848	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		504					A1L303|Q6NT03|Q9H8B8	Frame_Shift_Ins	INS	ENST00000251808.3	37	c.1509_1510insCTCT	CCDS34931.1																																																																																				0.421	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	0	NM_024915		8:102649148
SLC25A38	54977	broad.mit.edu	37	3	39431021	39431021	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:39431021C>T	ENST00000273158.4	+	2	482	c.105C>T	c.(103-105)tcC>tcT	p.S35S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTGTGGCTCCATCAGTGGGA	0.512																																						ENST00000273158.4		NA																	0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(103-105)tcC>tcT		solute carrier family 25, member 38							211.0	175.0	187.0					3																	39431021		2203	4300	6503	SO:0001819	synonymous_variant	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39431021C>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.105C>T	3.37:g.39431021C>T		False	False		Somatic	0					p.S35S	NM_017875.2	NP_060345.2	WXS	Illumina HiSeq	Phase_I	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	2	482	+			35						Silent	SNP	ENST00000273158.4	37	c.105C>T	CCDS2685.1																																																																																				0.512	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	0	NM_017875		3:39431021
PSMC5	5705	broad.mit.edu	37	17	61902464	61902464	+	5'Flank	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:61902464C>T	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_Missense_Mutation_p.E219K|PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ACTTCAACCTCCTTAAAGGCA	0.428																																						ENST00000427159.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(655-657)Gag>Aag		FtsJ homolog 3 (E. coli)							88.0	93.0	91.0					17																	61902464		2202	4300	6502	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902464C>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902464C>T	Exception_encountered	False	False		Somatic	0					p.E219K	NM_017647.3	NP_060117.3	WXS	Illumina HiSeq	Phase_I	Q8IY81	RRMJ3_HUMAN			8	1300	-			219					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.655G>A	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378304	0.82682	.	.	ENSG00000108592	ENST00000427159	T	0.38077	1.16	5.04	5.04	0.67666	.	0.053441	0.64402	D	0.000001	T	0.60090	0.2242	M	0.78916	2.43	0.58432	D	0.999995	D	0.65815	0.995	D	0.65874	0.939	T	0.63695	-0.6579	10	0.62326	D	0.03	-23.3955	15.9337	0.79686	0.0:1.0:0.0:0.0	.	219	Q8IY81	RRMJ3_HUMAN	K	219	ENSP00000396673:E219K	ENSP00000396673:E219K	E	-	1	0	FTSJ3	59256196	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	5.505000	0.66981	2.618000	0.88619	0.563000	0.77884	GAG		0.428	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	0	NM_002805		17:61902464
RBM12	10137	broad.mit.edu	37	20	34242517	34242517	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:34242517C>T	ENST00000374114.3	-	3	991	c.728G>A	c.(727-729)gGc>gAc	p.G243D	CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.G243D|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G243D	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	243	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGGCGGCATGCCCGACATGGG	0.552																																						ENST00000374114.3		NA																	0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(727-729)gGc>gAc		RNA binding motif protein 12							73.0	71.0	72.0					20																	34242517		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242517C>T	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.728G>A	20.37:g.34242517C>T	ENSP00000363228:p.Gly243Asp	True	False		Somatic	0				RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G243D|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.G243D	p.G243D	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	WXS	Illumina HiSeq	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	991	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		243			Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.728G>A	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860805	0.32884	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942;ENST00000424458	T;T;T;T	0.21191	2.57;2.57;2.57;2.02	5.23	3.3	0.37823	.	0.166261	0.42294	D	0.000732	T	0.13713	0.0332	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05354	-1.0890	10	0.87932	D	0	-3.4766	10.183	0.42980	0.1366:0.7931:0.0:0.0702	.	243	Q9NTZ6	RBM12_HUMAN	D	243;243;243;42;243	ENSP00000363228:G243D;ENSP00000352668:G243D;ENSP00000363217:G243D;ENSP00000411036:G243D	ENSP00000339879:G42D	G	-	2	0	RBM12	33705931	1.000000	0.71417	0.913000	0.36048	0.958000	0.62258	4.351000	0.59398	0.780000	0.33566	0.555000	0.69702	GGC		0.552	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	NM_006047		20:34242517
SPEG	10290	broad.mit.edu	37	2	220312960	220312960	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:220312960G>A	ENST00000312358.7	+	4	1212	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Silent_p.S256S|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	360					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTCCAAGTCGTCCGGGCCCT	0.716																																						ENST00000312358.7		NA																	0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(1078-1080)tcG>tcA		SPEG complex locus							15.0	19.0	18.0					2																	220312960		1948	4099	6047	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220312960G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.1080G>A	2.37:g.220312960G>A		False	False		Somatic	0				SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Silent_p.S256S	p.S360S	NM_005876.4	NP_005867.3	WXS	Illumina HiSeq	Phase_I	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	4	1212	+		Renal(207;0.0183)	360					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.1080G>A	CCDS42824.1																																																																																				0.716	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	0	NM_005876		2:220312960
WBSCR17	64409	broad.mit.edu	37	7	71130456	71130456	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:71130456C>T	ENST00000333538.5	+	7	1775	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	381	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCACATTGAGCGGAAGAAGAA	0.488																																						ENST00000333538.5		NA																	0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1141-1143)Cgg>Tgg		Williams-Beuren syndrome chromosome region 17							106.0	100.0	102.0					7																	71130456		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130456C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1141C>T	7.37:g.71130456C>T	ENSP00000329654:p.Arg381Trp	False	False		Somatic	0				WBSCR17_ENST00000498380.2_3'UTR	p.R381W	NM_022479.1	NP_071924.1	WXS	Illumina HiSeq	Phase_I	Q6IS24	GLTL3_HUMAN			7	1775	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	381			Catalytic subdomain B.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1141C>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033947	0.75504	.	.	ENSG00000185274	ENST00000333538	T	0.69175	-0.38	5.85	1.83	0.25207	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	H	0.98936	4.375	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92381	0.5913	10	0.87932	D	0	.	15.3575	0.74440	0.6063:0.3937:0.0:0.0	.	381	Q6IS24	GLTL3_HUMAN	W	381	ENSP00000329654:R381W	ENSP00000329654:R381W	R	+	1	2	WBSCR17	70768392	0.877000	0.30153	1.000000	0.80357	0.987000	0.75469	1.218000	0.32467	0.362000	0.24319	-0.261000	0.10672	CGG		0.488	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	0	NM_022479		7:71130456
TBC1D32	221322	broad.mit.edu	37	6	121560264	121560264	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:121560264G>A	ENST00000398212.2	-	20	2365	c.2316C>T	c.(2314-2316)acC>acT	p.T772T	TBC1D32_ENST00000275159.6_Silent_p.T772T|TBC1D32_ENST00000398197.2_5'Flank	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	772					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TTCTGGGATGGGTTACCCTAA	0.328																																						ENST00000275159.6		NA																	0					NA						c.(2314-2316)acC>acT		TBC1 domain family, member 32							141.0	140.0	140.0					6																	121560264		1818	4074	5892	SO:0001819	synonymous_variant	221322							g.chr6:121560264G>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2316C>T	6.37:g.121560264G>A		True	False		Somatic	0				TBC1D32_ENST00000398212.2_Silent_p.T772T	p.T772T			WXS	Illumina HiSeq	Phase_I					20	2315	-			NA					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.2316C>T	CCDS43501.1																																																																																				0.328	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	0	NM_152730		6:121560264
TBX20	57057	broad.mit.edu	37	7	35293131	35293131	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:35293131G>A	ENST00000408931.3	-	1	627	c.101C>T	c.(100-102)gCg>gTg	p.A34V		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	34					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTTCTCCGTCGCCTCCTTCTC	0.647																																						ENST00000408931.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(100-102)gCg>gTg		T-box 20							51.0	47.0	48.0					7																	35293131		2202	4300	6502	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35293131G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.101C>T	7.37:g.35293131G>A	ENSP00000386170:p.Ala34Val	False	False		Somatic	0					p.A34V	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	WXS	Illumina HiSeq	Phase_I	Q9UMR3	TBX20_HUMAN			1	627	-			34					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.101C>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501515	0.44455	.	.	ENSG00000164532	ENST00000408931	D	0.87809	-2.3	5.35	4.39	0.52855	.	0.505372	0.22454	N	0.059858	T	0.72399	0.3455	N	0.08118	0	0.09310	N	0.999998	B	0.27971	0.196	B	0.15052	0.012	T	0.60286	-0.7293	10	0.30078	T	0.28	.	12.1051	0.53807	0.0936:0.0:0.9064:0.0	.	34	Q9UMR3	TBX20_HUMAN	V	34	ENSP00000386170:A34V	ENSP00000386170:A34V	A	-	2	0	TBX20	35259656	0.532000	0.26346	0.486000	0.27416	0.955000	0.61496	3.672000	0.54583	1.099000	0.41499	0.462000	0.41574	GCG		0.647	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	0	NM_020417		7:35293131
KIAA1755	85449	broad.mit.edu	37	20	36868017	36868017	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:36868017T>C	ENST00000279024.4	-	4	1931	c.1660A>G	c.(1660-1662)Acc>Gcc	p.T554A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	554										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCTCCAGGGTGGGGCCTCTT	0.617																																						ENST00000279024.4		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1660-1662)Acc>Gcc		KIAA1755							41.0	45.0	43.0					20																	36868017		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36868017T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1660A>G	20.37:g.36868017T>C	ENSP00000279024:p.Thr554Ala	True	False		Somatic	0					p.T554A	NM_001029864.1	NP_001025035.1	WXS	Illumina HiSeq	Phase_I	Q5JYT7	K1755_HUMAN			4	1931	-		Myeloproliferative disorder(115;0.00874)	554					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1660A>G	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	0.464	-0.887640	0.02511	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.05025	3.51	4.43	-5.28	0.02755	.	1.521150	0.03937	N	0.286316	T	0.02688	0.0081	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44174	-0.9345	10	0.10111	T	0.7	.	6.8638	0.24082	0.0:0.3583:0.4205:0.2212	.	554	Q5JYT7	K1755_HUMAN	A	554;101	ENSP00000279024:T554A	ENSP00000279024:T554A	T	-	1	0	KIAA1755	36301431	0.000000	0.05858	0.000000	0.03702	0.713000	0.41058	-2.726000	0.00808	-0.948000	0.03668	0.374000	0.22700	ACC		0.617	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	0	NM_001029864		20:36868017
PLEKHA5	54477	broad.mit.edu	37	12	19436284	19436284	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:19436284G>A	ENST00000299275.6	+	11	1372	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E456K	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	456					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCGCTACCCTGAAGGTTATAG	0.408																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1366-1368)Gaa>Aaa		pleckstrin homology domain containing, family A member 5							57.0	55.0	55.0					12																	19436284		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436284G>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1366G>A	12.37:g.19436284G>A	ENSP00000299275:p.Glu456Lys	False	False		Somatic	0				PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E456K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K	p.E456K	NM_001143821.2	NP_001137293.2	WXS	Illumina HiSeq	Phase_I	Q9HAU0	PKHA5_HUMAN			11	1370	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		456					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1366G>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259184	0.80246	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	4.16	3.25	0.37280	.	0.050946	0.85682	D	0.000000	T	0.37019	0.0988	M	0.78801	2.425	0.46874	D	0.999231	D;D;D;D;D;D;D	0.76494	0.995;0.996;0.997;0.992;0.999;0.985;0.991	D;D;D;P;D;P;D	0.78314	0.92;0.94;0.939;0.872;0.991;0.831;0.919	T	0.33624	-0.9861	10	0.72032	D	0.01	-3.3078	13.6615	0.62370	0.0:0.0:0.8444:0.1556	.	456;348;348;462;462;456;456	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	K	456;456;456;463;456;462;456;214;456;348;348;348	ENSP00000325155:E456K;ENSP00000347560:E456K;ENSP00000352104:E456K;ENSP00000311239:E456K;ENSP00000404296:E462K;ENSP00000299275:E456K;ENSP00000440611:E214K;ENSP00000439673:E456K;ENSP00000400411:E348K;ENSP00000439837:E348K;ENSP00000440371:E348K	ENSP00000299275:E456K	E	+	1	0	PLEKHA5	19327551	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	8.625000	0.90965	1.075000	0.40932	0.655000	0.94253	GAA		0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	0	NM_019012		12:19436284
RP11-123M6.2	0	broad.mit.edu	37	14	101318784	101318784	+	RNA	SNP	G	G	A	rs576028387		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr14:101318784G>A	ENST00000554041.1	-	0	143				MIR770_ENST00000390219.1_RNA																							GCTGGGCCTCGTGGGCCTGAT	0.602																																						ENST00000554041.1		NA																	0					NA															56.0	56.0	56.0					14																	101318784		1568	3582	5150			0							g.chr14:101318784G>A																													14.37:g.101318784G>A		False	False		Somatic	0				MIR770_ENST00000390219.1_RNA				WXS	Illumina HiSeq	Phase_I					0	143	-			NA						RNA	SNP	ENST00000554041.1	37																																																																																						0.602	RP11-123M6.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000414687.1	0			14:101318784
SIGLEC8	27181	broad.mit.edu	37	19	51961269	51961269	+	Missense_Mutation	SNP	G	G	A	rs200631849		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:51961269G>A	ENST00000321424.3	-	1	439	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	125					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCTCTAGCCGAAAGAAATAT	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19937	0.0		0.0	False		,,,				2504	0.0					ENST00000321424.3		NA																	0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(373-375)Cgg>Tgg		sialic acid binding Ig-like lectin 8		G	TRP/ARG	0,4406		0,0,2203	130.0	128.0	129.0		373	-2.7	0.0	19		129	1,8599		0,1,4299	no	missense	SIGLEC8	NM_014442.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	125/500	51961269	1,13005	2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961269G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.373C>T	19.37:g.51961269G>A	ENSP00000321077:p.Arg125Trp	True	False		Somatic	0				SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W	p.R125W	NM_014442.2	NP_055257.2	WXS	Illumina HiSeq	Phase_I	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	439	-		all_neural(266;0.0199)	125					Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.373C>T	CCDS33086.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.84	2.358199	0.41801	0.0	1.16E-4	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.66638	-0.22;-0.22;-0.22	2.56	-2.68	0.06041	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.069320	0.07486	N	0.904738	T	0.81574	0.4851	M	0.87038	2.855	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;P	0.87578	0.952;0.998;0.853	T	0.71889	-0.4456	10	0.72032	D	0.01	.	9.4331	0.38622	0.0:0.0:0.7045:0.2955	.	125;125;125	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	W	125	ENSP00000389142:R125W;ENSP00000321077:R125W;ENSP00000339448:R125W	ENSP00000321077:R125W	R	-	1	2	SIGLEC8	56653081	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-2.251000	0.01186	-0.676000	0.05238	0.398000	0.26397	CGG		0.502	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	0	NM_014442		19:51961269
GABRB1	2560	broad.mit.edu	37	4	47427807	47427807	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:47427807C>T	ENST00000295454.3	+	9	1489	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	GABRB1_ENST00000538619.1_Silent_p.S329S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	399					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	CCTATGACAGCGCCAGCATCC	0.657																																						ENST00000295454.3		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1195-1197)agC>agT		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						46.0	52.0	50.0					4																	47427807		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427807C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1197C>T	4.37:g.47427807C>T		False	False		Somatic	0				GABRB1_ENST00000538619.1_Silent_p.S329S	p.S399S	NM_000812.3	NP_000803.2	WXS	Illumina HiSeq	Phase_I	P18505	GBRB1_HUMAN			9	1489	+			399					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1197C>T	CCDS3474.1																																																																																				0.657	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	0			4:47427807
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:179587193G>A	ENST00000591111.1	-	75	21594	c.21370C>T	c.(21370-21372)Cga>Tga	p.R7124*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R7441*|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12700	Ig-like 53.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R6197*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTAATCGACAAGTGAGT	0.418																																						ENST00000589042.1		NA																	1	Substitution - Nonsense(1)	p.R6197*(1)	endometrium(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(22321-22323)Cga>Tga		titin							94.0	91.0	92.0					2																	179587193		1865	4122	5987	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587193G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21370C>T	2.37:g.179587193G>A	ENSP00000465570:p.Arg7124*	False	False		Somatic	0				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*	p.R7441*	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	22545	-			7124	S -> N (in Ref. 1; CAA62189).		Ig-like 56.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.22321C>T		.	.	.	.	.	.	.	.	.	.	G	58	31.894429	0.99979	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.95	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2951	0.82767	0.0:0.0:0.8666:0.1334	.	.	.	.	X	6197	.	ENSP00000343764:R6197X	R	-	1	2	TTN	179295438	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	3.754000	0.55189	1.458000	0.47871	0.650000	0.86243	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179587193
SDK1	221935	broad.mit.edu	37	7	4185464	4185464	+	Missense_Mutation	SNP	G	G	A	rs371754353		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:4185464G>A	ENST00000404826.2	+	29	4478	c.4339G>A	c.(4339-4341)Gca>Aca	p.A1447T	SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1447	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCGGAGTCCGCATACATCTT	0.662																																						ENST00000404826.2		NA																	0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4339-4341)Gca>Aca		sidekick cell adhesion molecule 1		G	THR/ALA	0,4406		0,0,2203	55.0	50.0	52.0		4339	5.0	0.7	7		52	2,8598	2.2+/-6.3	0,2,4298	no	missense	SDK1	NM_152744.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1447/2214	4185464	2,13004	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4185464G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4339G>A	7.37:g.4185464G>A	ENSP00000385899:p.Ala1447Thr	False	False		Somatic	0				SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T	p.A1447T	NM_152744.3	NP_689957.3	WXS	Illumina HiSeq	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	29	4478	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1447			Fibronectin type-III 8.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4339G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217704	0.39201	0.0	2.33E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56103	0.48;0.48	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.31327	0.0793	N	0.04090	-0.28	0.27196	N	0.960291	P;P	0.52692	0.526;0.955	B;P	0.45343	0.138;0.477	T	0.11227	-1.0596	10	0.20519	T	0.43	.	10.7984	0.46474	0.0865:0.0:0.9135:0.0	.	1447;1447	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	T	1447	ENSP00000385899:A1447T;ENSP00000374182:A1447T	ENSP00000374182:A1447T	A	+	1	0	SDK1	4151990	0.978000	0.34361	0.687000	0.30102	0.880000	0.50808	3.755000	0.55197	2.296000	0.77279	0.462000	0.41574	GCA		0.662	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	NM_152744		7:4185464
HOXC12	3228	broad.mit.edu	37	12	54348951	54348951	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:54348951G>A	ENST00000243103.3	+	1	334	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	80					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCCTCCCTTCGGCCGCACGTG	0.721																																						ENST00000243103.3		NA																	0				large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						c.(238-240)Ggc>Agc		homeobox C12							16.0	13.0	14.0					12																	54348951		2185	4284	6469	SO:0001583	missense	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54348951G>A	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.238G>A	12.37:g.54348951G>A	ENSP00000243103:p.Gly80Ser	False	False		Somatic	0					p.G80S	NM_173860.1	NP_776272.1	WXS	Illumina HiSeq	Phase_I	P31275	HXC12_HUMAN			1	334	+			80					Q9BXJ6	Missense_Mutation	SNP	ENST00000243103.3	37	c.238G>A	CCDS8866.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536334	0.27475	.	.	ENSG00000123407	ENST00000243103	D	0.92348	-3.02	2.85	2.85	0.33270	.	0.142741	0.48286	D	0.000198	T	0.71350	0.3329	N	0.00642	-1.3	0.32432	N	0.547853	B	0.21688	0.059	B	0.10450	0.005	T	0.71196	-0.4664	10	0.20519	T	0.43	.	7.7023	0.28630	0.1267:0.0:0.8733:0.0	.	80	P31275	HXC12_HUMAN	S	80	ENSP00000243103:G80S	ENSP00000243103:G80S	G	+	1	0	HOXC12	52635218	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	3.133000	0.50531	1.903000	0.55091	0.455000	0.32223	GGC		0.721	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	0	NM_173860		12:54348951
RPUSD4	84881	broad.mit.edu	37	11	126081418	126081418	+	Missense_Mutation	SNP	G	G	A	rs202117043		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:126081418G>A	ENST00000298317.4	-	1	169	c.116C>T	c.(115-117)aCg>aTg	p.T39M	FAM118B_ENST00000533050.1_5'UTR|FAM118B_ENST00000529731.1_5'Flank|FAM118B_ENST00000360194.4_5'Flank|RPUSD4_ENST00000533628.1_Missense_Mutation_p.T39M|RP11-50B3.4_ENST00000532866.1_RNA|RPUSD4_ENST00000534393.1_5'Flank|RNU4-86P_ENST00000410135.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	39					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTTATGGCCGTAGAGGCAGC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		15853	0.001		0.0	False		,,,				2504	0.0					ENST00000298317.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(115-117)aCg>aTg		RNA pseudouridylate synthase domain containing 4							124.0	134.0	131.0					11																	126081418		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126081418G>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.116C>T	11.37:g.126081418G>A	ENSP00000298317:p.Thr39Met	False	False		Somatic	0				FAM118B_ENST00000533050.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.T39M	p.T39M	NM_032795.2	NP_116184.2	WXS	Illumina HiSeq	Phase_I	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	1	169	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	39					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.116C>T	CCDS8469.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.334	0.827140	0.16749	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.24538	2.89;2.71;1.85	5.01	-5.71	0.02413	.	1.592770	0.03060	N	0.155783	T	0.11623	0.0283	N	0.22421	0.69	0.09310	N	0.999996	P;P	0.45283	0.855;0.855	B;B	0.28638	0.092;0.092	T	0.34030	-0.9845	10	0.44086	T	0.13	-17.3736	6.4374	0.21831	0.0:0.2341:0.2482:0.5177	.	39;39	E9PML2;Q96CM3	.;RUSD4_HUMAN	M	39	ENSP00000298317:T39M;ENSP00000433065:T39M;ENSP00000433709:T39M	ENSP00000298317:T39M	T	-	2	0	RPUSD4	125586628	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.824000	0.04438	-1.192000	0.02691	-0.275000	0.10095	ACG		0.592	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	0	NM_032795		11:126081418
SCN9A	6335	broad.mit.edu	37	2	167168078	167168078	+	Silent	SNP	A	A	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:167168078A>G	ENST00000409435.1	-	1	188	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000375387.4_Silent_p.Y63Y|SCN9A_ENST00000303354.6_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	63					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATGTCCCCATAGATGAAGG	0.473																																						ENST00000303354.6		NA																	0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(187-189)taT>taC		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						91.0	99.0	97.0					2																	167168078		2108	4270	6378	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167168078A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.189T>C	2.37:g.167168078A>G		True	False		Somatic	0				SCN9A_ENST00000375387.4_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000409435.1_Silent_p.Y63Y	p.Y63Y			WXS	Illumina HiSeq	Phase_I	Q15858	SCN9A_HUMAN			2	529	-			63					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.189T>C	CCDS46441.1																																																																																				0.473	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	0	NM_002977		2:167168078
RFPL1	5988	broad.mit.edu	37	22	29837713	29837713	+	Missense_Mutation	SNP	G	G	A	rs577925684		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:29837713G>A	ENST00000354373.2	+	2	765	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	186	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GGAGGTGGACGTGGGAACAAG	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19016	0.0		0.0	False		,,,				2504	0.0					ENST00000354373.2		NA																	0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(556-558)Gtg>Atg		ret finger protein-like 1							88.0	87.0	88.0					22																	29837713		2203	4296	6499	SO:0001583	missense	5988						zinc ion binding	g.chr22:29837713G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.556G>A	22.37:g.29837713G>A	ENSP00000346342:p.Val186Met	False	False		Somatic	0				RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	p.V186M	NM_021026.2	NP_066306.2	WXS	Illumina HiSeq	Phase_I	O75677	RFPL1_HUMAN			2	765	+			186			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.556G>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436705	0.43224	.	.	ENSG00000128250	ENST00000354373	T	0.74526	-0.85	0.911	-0.286	0.12862	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.80737	0.4680	M	0.72894	2.215	0.23943	N	0.9964	D	0.76494	0.999	D	0.68353	0.957	T	0.67317	-0.5701	9	0.66056	D	0.02	.	5.1838	0.15174	0.2409:0.0:0.7591:0.0	.	186	O75677	RFPL1_HUMAN	M	186	ENSP00000346342:V186M	ENSP00000346342:V186M	V	+	1	0	RFPL1	28167713	1.000000	0.71417	0.005000	0.12908	0.397000	0.30659	2.655000	0.46707	-0.047000	0.13423	0.184000	0.17185	GTG		0.562	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	0	NM_021026		22:29837713
KIAA1551	55196	broad.mit.edu	37	12	32134698	32134698	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:32134698C>T	ENST00000312561.4	+	4	1223	c.809C>T	c.(808-810)gCc>gTc	p.A270V	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	270																	CAGCAGTATGCCACGCAAACT	0.403																																						ENST00000312561.4		NA																	0					NA						c.(808-810)gCc>gTc		KIAA1551							92.0	90.0	91.0					12																	32134698		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32134698C>T	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.809C>T	12.37:g.32134698C>T	ENSP00000310338:p.Ala270Val	False	False		Somatic	0				KIAA1551_ENST00000535596.1_Intron	p.A270V	NM_018169.3	NP_060639	WXS	Illumina HiSeq	Phase_I					4	1223	+			NA					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.809C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826558	0.71143	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.18174	2.86;2.23	5.68	2.86	0.33363	.	0.386815	0.22282	N	0.062109	T	0.11153	0.0272	L	0.36672	1.1	0.09310	N	1	P	0.39759	0.687	B	0.33121	0.158	T	0.17806	-1.0357	9	.	.	.	.	9.5763	0.39459	0.0:0.7839:0.0:0.2161	.	270	Q9HCM1	CL035_HUMAN	V	270	ENSP00000310338:A270V;ENSP00000370442:A270V	.	A	+	2	0	C12orf35	32025965	0.018000	0.18449	0.025000	0.17156	0.284000	0.27059	1.422000	0.34826	1.402000	0.46780	0.650000	0.86243	GCC		0.403	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	0	NM_018169		12:32134698
CDC25B	994	broad.mit.edu	37	20	3785242	3785242	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:3785242G>A	ENST00000245960.5	+	15	2214	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	506	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GAACGAGACCGTGCTGTCAAC	0.592																																						ENST00000245960.5		NA																	0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1516-1518)cGt>cAt		cell division cycle 25B							173.0	151.0	159.0					20																	3785242		2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3785242G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1517G>A	20.37:g.3785242G>A	ENSP00000245960:p.Arg506His	False	False		Somatic	0				CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H	p.R506H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	WXS	Illumina HiSeq	Phase_I	P30305	MPIP2_HUMAN			15	2214	+			506			Rhodanese.		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1517G>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895500	0.72639	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.15	4.19	0.49359	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	H	0.97365	3.99	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;0.999	T	0.76323	-0.3001	10	0.87932	D	0	-33.0368	12.1596	0.54098	0.0851:0.0:0.9149:0.0	.	415;428;442;465;492;506	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	442;415;506;492;465	ENSP00000339125:R442H;ENSP00000368918:R415H;ENSP00000245960:R506H;ENSP00000405972:R492H;ENSP00000339170:R465H	ENSP00000245960:R506H	R	+	2	0	CDC25B	3733242	1.000000	0.71417	0.201000	0.23476	0.563000	0.35712	9.313000	0.96297	1.295000	0.44724	0.563000	0.77884	CGT		0.592	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	0	NM_021874		20:3785242
NAA60	79903	broad.mit.edu	37	16	3533506	3533506	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr16:3533506C>T	ENST00000407558.4	+	6	784	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	NAA60_ENST00000610180.1_Missense_Mutation_p.L161F|NAA60_ENST00000572584.1_Missense_Mutation_p.L161F|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608993.1_Missense_Mutation_p.L96F|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000424546.2_Missense_Mutation_p.L168F|NAA60_ENST00000575076.1_Missense_Mutation_p.L161F|NAA60_ENST00000608722.1_Missense_Mutation_p.L161F|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.L161F|NAA60_ENST00000573580.1_Missense_Mutation_p.L96F|NAA60_ENST00000360862.5_Missense_Mutation_p.L96F			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	161	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GCACCACTATCTCCCCTATTA	0.488																																						ENST00000407558.4		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(481-483)Ctc>Ttc		N(alpha)-acetyltransferase 60, NatF catalytic subunit							142.0	151.0	148.0					16																	3533506		2039	4183	6222	SO:0001583	missense	79903						N-acetyltransferase activity	g.chr16:3533506C>T		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.481C>T	16.37:g.3533506C>T	ENSP00000385903:p.Leu161Phe	False	False		Somatic	0				NAA60_ENST00000572584.1_Missense_Mutation_p.L161F|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000608722.1_Missense_Mutation_p.L161F|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000608993.1_Missense_Mutation_p.L96F|NAA60_ENST00000360862.5_Missense_Mutation_p.L96F|NAA60_ENST00000414063.2_Missense_Mutation_p.L161F|NAA60_ENST00000575076.1_Missense_Mutation_p.L161F|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000573580.1_Missense_Mutation_p.L96F|NAA60_ENST00000610180.1_Missense_Mutation_p.L161F|NAA60_ENST00000577013.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000424546.2_Missense_Mutation_p.L168F	p.L161F			WXS	Illumina HiSeq	Phase_I	Q9H7X0	NAT15_HUMAN			6	784	+			161			N-acetyltransferase.		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	c.481C>T	CCDS45396.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168352	0.78339	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.55588	0.51;0.53;0.53;0.93	5.47	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.982	T	0.71269	-0.4643	10	0.52906	T	0.07	-23.1009	13.5107	0.61511	0.0:0.9245:0.0:0.0755	.	168;161	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	F	168;161;161;96	ENSP00000401237:L168F;ENSP00000385903:L161F;ENSP00000393224:L161F;ENSP00000354108:L96F	ENSP00000354108:L96F	L	+	1	0	NAA60	3473507	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	4.419000	0.59835	1.448000	0.47680	0.561000	0.74099	CTC		0.488	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	0	NM_024845		16:3533506
UBR4	23352	broad.mit.edu	37	1	19505631	19505631	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:19505631C>T	ENST00000375254.3	-	18	2295	c.2268G>A	c.(2266-2268)gtG>gtA	p.V756V	UBR4_ENST00000375226.2_Silent_p.V756V|UBR4_ENST00000375267.2_Silent_p.V756V|UBR4_ENST00000375217.2_Silent_p.V756V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	756					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCGTGAAAGCACAGAGAGGC	0.507																																						ENST00000375267.2		NA																	0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(2266-2268)gtG>gtA		ubiquitin protein ligase E3 component n-recognin 4							136.0	127.0	130.0					1																	19505631		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19505631C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2268G>A	1.37:g.19505631C>T		False	False		Somatic	0				UBR4_ENST00000375226.2_Silent_p.V756V|UBR4_ENST00000375254.3_Silent_p.V756V|UBR4_ENST00000375217.2_Silent_p.V756V	p.V756V			WXS	Illumina HiSeq	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	18	2271	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	756					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.2268G>A	CCDS189.1																																																																																				0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	NM_020765		1:19505631
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:45128735T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GAAATACTAATGATTTTTATT	0.323																																						ENST00000575173.1		NA																	0					NA																																														0							g.chr17:45128735T>C																													17.37:g.45128735T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	418	-			NA						RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1	0			17:45128735
RARG	5916	broad.mit.edu	37	12	53607867	53607867	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:53607867G>A	ENST00000425354.2	-	7	1276	c.789C>T	c.(787-789)ctC>ctT	p.L263L	RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000327550.3_Silent_p.L191L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	263	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2		NA																	0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(787-789)ctC>ctT		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						205.0	201.0	203.0					12																	53607867		2203	4300	6503	SO:0001819	synonymous_variant	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607867G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.789C>T	12.37:g.53607867G>A		True	False		Somatic	0	OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000394426.1_Silent_p.L263L	p.L263L	NM_000966.5	NP_000957.1	WXS	Illumina HiSeq	Phase_I	P13631	RARG_HUMAN			7	1276	-			263			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	c.789C>T	CCDS8850.1																																																																																				0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	0	NM_000966		12:53607867
HSPG2	3339	broad.mit.edu	37	1	22216568	22216568	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216568C>G	ENST00000374695.3	-	6	559	c.480G>C	c.(478-480)caG>caC	p.Q160H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	160	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCTCCTGAATCTGAGCCCCAT	0.622																																						ENST00000374695.3		NA																	0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(478-480)caG>caC		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						175.0	153.0	161.0					1																	22216568		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216568C>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.480G>C	1.37:g.22216568C>G	ENSP00000363827:p.Gln160His	False	False		Somatic	0					p.Q160H	NM_005529.5	NP_005520.4	WXS	Illumina HiSeq	Phase_I	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	6	559	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	160			SEA.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.480G>C	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.51|15.51	2.856016|2.856016	0.51376|0.51376	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	T;T|T	0.76186|0.54675	-1.0;0.77|0.56	5.44|5.44	4.53|4.53	0.55603|0.55603	SEA (2);|.	0.000000|.	0.37857|.	N|.	0.001913|.	T|T	0.58906|0.58906	0.2155|0.2155	L|L	0.29908|0.29908	0.895|0.895	0.51233|0.51233	D|D	0.999914|0.999914	D|D	0.67145|0.89917	0.996|1.0	D|D	0.64042|0.71656	0.921|0.974	T|T	0.62576|0.62576	-0.6825|-0.6825	10|9	0.87932|0.72032	D|D	0|0.01	.|.	11.8428|11.8428	0.52364|0.52364	0.0:0.9161:0.0:0.0839|0.0:0.9161:0.0:0.0839	.|.	160|83	P98160|Q5SZI5	PGBM_HUMAN|.	H|T	160;126|83	ENSP00000363827:Q160H;ENSP00000395884:Q126H|ENSP00000405412:R83T	ENSP00000363827:Q160H|ENSP00000405412:R83T	Q|R	-|-	3|2	2|0	HSPG2|HSPG2	22089155|22089155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.067000|0.067000	0.16453|0.16453	5.185000|5.185000	0.65076|0.65076	1.533000|1.533000	0.49186|0.49186	0.650000|0.650000	0.86243|0.86243	CAG|AGA		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	0	NM_005529		1:22216568
FAH	2184	broad.mit.edu	37	15	80465429	80465429	+	Silent	SNP	T	T	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:80465429T>A	ENST00000407106.1	+	10	935	c.780T>A	c.(778-780)tcT>tcA	p.S260S	FAH_ENST00000539156.1_Silent_p.S190S|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Silent_p.S260S|FAH_ENST00000261755.5_Silent_p.S260S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	260					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACTGTCTCTCCGTGGGTGG	0.572									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539156.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(568-570)tcT>tcA		fumarylacetoacetate hydrolase (fumarylacetoacetase)							199.0	166.0	177.0					15																	80465429		2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80465429T>A	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.780T>A	15.37:g.80465429T>A		True	False		Somatic	0	OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1198	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Silent_p.S260S|FAH_ENST00000561421.1_Silent_p.S260S|FAH_ENST00000261755.5_Silent_p.S260S	p.S190S			WXS	Illumina HiSeq	Phase_I	P16930	FAAA_HUMAN			8	2808	+			260					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.570T>A	CCDS10314.1																																																																																				0.572	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2	0			15:80465429
PKDREJ	10343	broad.mit.edu	37	22	46654414	46654414	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:46654414G>A	ENST00000253255.5	-	1	4805	c.4806C>T	c.(4804-4806)taC>taT	p.Y1602Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1602					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTCATAGCCGTAAGTCAGTC	0.398																																						ENST00000253255.5		NA																	0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4804-4806)taC>taT		polycystin (PKD) family receptor for egg jelly							97.0	91.0	93.0					22																	46654414		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654414G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4806C>T	22.37:g.46654414G>A		False	False		Somatic	0					p.Y1602Y	NM_006071.1	NP_006062.1	WXS	Illumina HiSeq	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4805	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1602					B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.4806C>T	CCDS14073.1																																																																																				0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	0	NM_006071		22:46654414
CRMP1	1400	broad.mit.edu	37	4	5830236	5830236	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:5830236G>A	ENST00000397890.2	-	12	1655	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|CRMP1_ENST00000511535.1_5'UTR|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000324989.7_Missense_Mutation_p.R595C	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	481					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ATTTTGACGCGCTGGTACAGG	0.592																																						ENST00000324989.7		NA																	0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1783-1785)Cgc>Tgc		collapsin response mediator protein 1							99.0	82.0	88.0					4																	5830236		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5830236G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1441C>T	4.37:g.5830236G>A	ENSP00000380987:p.Arg481Cys	False	False		Somatic	0				CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|CRMP1_ENST00000397890.2_Missense_Mutation_p.R481C|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR	p.R595C	NM_001014809.1	NP_001014809.1	WXS	Illumina HiSeq	Phase_I	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	12	1871	-			481					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.1783C>T	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378726	0.82682	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.87029	-2.2;-2.13;-2.13	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	0.99;0.995;0.99;1.0	P;P;P;D	0.97110	0.839;0.636;0.807;1.0	D	0.95043	0.8180	10	0.72032	D	0.01	-32.1342	15.9993	0.80280	0.0:0.0:1.0:0.0	.	595;479;481;418	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	C	595;481;481;479	ENSP00000321606:R595C;ENSP00000380987:R481C;ENSP00000425742:R479C	ENSP00000321606:R595C	R	-	1	0	CRMP1	5881137	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.184000	0.94893	2.245000	0.73994	0.561000	0.74099	CGC		0.592	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	0	NM_001313		4:5830236
PABPC1	26986	broad.mit.edu	37	8	101730449	101730449	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:101730449T>A	ENST00000318607.5	-	2	1381	c.253A>T	c.(253-255)Atg>Ttg	p.M85L	PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L|PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	85	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGAGACCACATGATGCGTACT	0.398																																						ENST00000318607.5		NA																	0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(253-255)Atg>Ttg		poly(A) binding protein, cytoplasmic 1							74.0	69.0	71.0					8																	101730449		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101730449T>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.253A>T	8.37:g.101730449T>A	ENSP00000313007:p.Met85Leu	False	False		Somatic	0				PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L|PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L	p.M85L	NM_002568.3	NP_002559.2	WXS	Illumina HiSeq	Phase_I	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		2	1381	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		85			RRM 1.		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.253A>T	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	T	32	5.114517	0.94339	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000518196;ENST00000521865;ENST00000520142	T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.25245	0.725	0.58432	D	0.999995	P;P;P	0.42584	0.784;0.784;0.784	B;B;P	0.49953	0.188;0.387;0.627	T	0.09509	-1.0671	10	0.72032	D	0.01	.	15.6618	0.77193	0.0:0.0:0.0:1.0	.	85;85;85	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	L	85;85;40;85;40;85;85	ENSP00000313007:M85L;ENSP00000429594:M40L;ENSP00000429395:M85L;ENSP00000430159:M40L;ENSP00000429119:M85L;ENSP00000430012:M85L	ENSP00000313007:M85L	M	-	1	0	PABPC1	101799625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.020000	0.88740	2.167000	0.68274	0.528000	0.53228	ATG		0.398	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	0	NM_002568		8:101730449
PYHIN1	149628	broad.mit.edu	37	1	158913710	158913710	+	Missense_Mutation	SNP	G	G	A	rs148035759		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158913710G>A	ENST00000368140.1	+	6	1378	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	378	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTCTGCTTTCGACTGAGAAAG	0.363																																						ENST00000368140.1		NA																	0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1132-1134)cGa>cAa		pyrin and HIN domain family, member 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	82.0	83.0	82.0		1133,1106,1133,1106	0.6	0.0	1	dbSNP_134	82	0,8600		0,0,4300	no	missense,missense,missense,missense	PYHIN1	NM_152501.4,NM_198928.4,NM_198929.4,NM_198930.3	43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	378/493,369/484,378/462,369/453	158913710	3,13003	2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158913710G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1133G>A	1.37:g.158913710G>A	ENSP00000357122:p.Arg378Gln	False	False		Somatic	0				PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q	p.R378Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	WXS	Illumina HiSeq	Phase_I	Q6K0P9	IFIX_HUMAN			6	1378	+	all_hematologic(112;0.0378)		378			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1133G>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.185136	0.01620	6.81E-4	0.0	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	3.13	0.627	0.17675	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01523	0.0049	N	0.21142	0.635	0.09310	N	1	P;P;P;P	0.44429	0.703;0.688;0.703;0.835	B;B;B;B	0.28638	0.023;0.055;0.023;0.092	T	0.45011	-0.9290	9	0.18710	T	0.47	.	5.1931	0.15220	0.7652:0.0:0.2348:0.0	.	369;378;369;378	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	Q	378;369;378;369	ENSP00000357122:R378Q;ENSP00000357120:R369Q;ENSP00000376083:R378Q;ENSP00000376082:R369Q	ENSP00000357120:R369Q	R	+	2	0	PYHIN1	157180334	0.001000	0.12720	0.006000	0.13384	0.046000	0.14306	1.336000	0.33850	-0.002000	0.14469	-0.150000	0.13652	CGA		0.363	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	0	NM_152501		1:158913710
TARSL2	123283	broad.mit.edu	37	15	102252128	102252128	+	Missense_Mutation	SNP	G	G	A	rs146271638	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:102252128G>A	ENST00000335968.3	-	5	983	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	256					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCAATGGGCGGACCGTAGCA	0.463																																						ENST00000335968.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(766-768)cCg>cTg		threonyl-tRNA synthetase-like 2		A	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	97.0	84.0	89.0		767	4.6	0.4	15	dbSNP_134	89	0,8600		0,0,4300	yes	missense	TARSL2	NM_152334.2	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	256/803	102252128	2,13004	2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102252128G>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.767C>T	15.37:g.102252128G>A	ENSP00000338093:p.Pro256Leu	False	False		Somatic	0					p.P256L	NM_152334.2	NP_689547.2	WXS	Illumina HiSeq	Phase_I	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	983	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		256					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.767C>T	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.084891	0.76642	4.54E-4	0.0	ENSG00000185418	ENST00000335968;ENST00000539112	D;D	0.84146	-1.81;-1.81	5.49	4.58	0.56647	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.108661	0.64402	N	0.000004	D	0.94637	0.8271	H	0.98446	4.235	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	D	0.95685	0.8735	10	0.72032	D	0.01	-4.9582	12.3389	0.55083	0.0818:0.0:0.9182:0.0	.	256	A2RTX5	SYTC2_HUMAN	L	256	ENSP00000338093:P256L;ENSP00000439899:P256L	ENSP00000338093:P256L	P	-	2	0	TARSL2	100069651	1.000000	0.71417	0.382000	0.26119	0.886000	0.51366	7.731000	0.84895	1.342000	0.45619	-0.264000	0.10439	CCG		0.463	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	0	NM_152334		15:102252128
USP5	8078	broad.mit.edu	37	12	6970246	6970246	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:6970246C>T	ENST00000229268.8	+	12	1526	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	USP5_ENST00000389231.5_Missense_Mutation_p.P492S|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	492	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCTGCCTGTGCCCATGGATGC	0.557																																						ENST00000229268.8		NA																	0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1474-1476)Ccc>Tcc		ubiquitin specific peptidase 5 (isopeptidase T)							148.0	134.0	139.0					12																	6970246		2203	4300	6503	SO:0001583	missense	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970246C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1474C>T	12.37:g.6970246C>T	ENSP00000229268:p.Pro492Ser	True	False		Somatic	0				USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.P492S	p.P492S	NM_001098536.1	NP_001092006.1	WXS	Illumina HiSeq	Phase_I	P45974	UBP5_HUMAN			12	1526	+			492					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.1474C>T	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055182	0.93793	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.76316	-1.01;-1.01	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	M	0.85710	2.77	0.80722	D	1	D;D	0.60160	0.981;0.987	D;P	0.66084	0.941;0.779	D	0.90329	0.4350	10	0.66056	D	0.02	-5.5005	18.5776	0.91161	0.0:1.0:0.0:0.0	.	492;492	P45974;P45974-2	UBP5_HUMAN;.	S	492;492;135	ENSP00000229268:P492S;ENSP00000373883:P492S	ENSP00000229268:P492S	P	+	1	0	USP5	6840507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.610000	0.88304	0.561000	0.74099	CCC		0.557	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1	0			12:6970246
TCP11L2	255394	broad.mit.edu	37	12	106705000	106705000	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:106705000C>A	ENST00000299045.3	+	2	321	c.147C>A	c.(145-147)agC>agA	p.S49R	TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R|TCP11L2_ENST00000546625.1_Missense_Mutation_p.S49R	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	49	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GCAAATCCAGCTCTCCTGCTT	0.522																																						ENST00000546625.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(145-147)agC>agA		t-complex 11, testis-specific-like 2							58.0	57.0	57.0					12																	106705000		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106705000C>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.147C>A	12.37:g.106705000C>A	ENSP00000299045:p.Ser49Arg	False	False		Somatic	0				TCP11L2_ENST00000299045.3_Missense_Mutation_p.S49R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R	p.S49R			WXS	Illumina HiSeq	Phase_I	Q8N4U5	T11L2_HUMAN			2	306	+			49			Ser-rich.		B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.147C>A	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401042	0.25291	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098;ENST00000551802;ENST00000548428	T;T;T;T;T;T	0.30714	2.19;2.85;2.19;2.19;1.93;1.52	5.91	5.01	0.66863	.	0.357482	0.37178	N	0.002213	T	0.25494	0.0620	L	0.51422	1.61	0.45594	D	0.998536	B;P;P	0.36909	0.437;0.573;0.573	B;B;B	0.33521	0.117;0.165;0.165	T	0.02075	-1.1218	9	.	.	.	-1.542	10.1181	0.42603	0.0:0.8032:0.0:0.1968	.	49;49;49	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	R	49	ENSP00000448952:S49R;ENSP00000299045:S49R;ENSP00000449123:S49R;ENSP00000448629:S49R;ENSP00000447174:S49R;ENSP00000447457:S49R	.	S	+	3	2	TCP11L2	105229130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.943000	0.29030	2.793000	0.96121	0.655000	0.94253	AGC		0.522	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	0	NM_152772		12:106705000
NFS1	9054	broad.mit.edu	37	20	34260692	34260692	+	Missense_Mutation	SNP	C	C	T	rs188144557		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:34260692C>T	ENST00000374092.4	-	12	1365	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V92I|NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	432					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	TTCTCGAAGACGCTTCACATG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19113	0.001		0.0	False		,,,				2504	0.0					ENST00000374092.4		NA																	0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1294-1296)cGt>cAt		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						116.0	96.0	103.0					20																	34260692		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34260692C>T	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1295G>A	20.37:g.34260692C>T	ENSP00000363205:p.Arg432His	False	False		Somatic	0				RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V92I|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H	p.R432H	NM_021100.4	NP_066923.3	WXS	Illumina HiSeq	Phase_I	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		12	1365	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		432					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.1295G>A	CCDS13262.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.6	4.850104	0.91277	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	T;T;T;T;T	0.48522	1.78;2.8;2.8;0.81;1.78	5.26	4.32	0.51571	Pyridoxal phosphate-dependent transferase, major domain (1);	0.050804	0.85682	D	0.000000	T	0.67850	0.2937	M	0.82132	2.575	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.66497	0.944;0.651	T	0.73285	-0.4031	10	0.62326	D	0.03	-6.6659	14.1886	0.65623	0.0:0.9281:0.0:0.0719	.	381;432	F5GYK5;Q9Y697	.;NFS1_HUMAN	H	432;372;372;230;381	ENSP00000363205:R432H;ENSP00000363198:R372H;ENSP00000380570:R372H;ENSP00000438594:R230H;ENSP00000440897:R381H	ENSP00000363198:R372H	R	-	2	0	NFS1	33724106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.285000	0.78660	1.450000	0.47717	0.563000	0.77884	CGT		0.458	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	0	NM_021100		20:34260692
TNFRSF13B	23495	broad.mit.edu	37	17	16831075	16831075	+	IGR	SNP	A	A	C			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:16831075A>C	ENST00000437538.2	-	0	1397				TBC1D27_ENST00000261651.2_RNA			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B						B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GGAGGACGGCAGTGTTGCGGC	0.632									IgA Deficiency, Selective																													ENST00000261651.2		NA																	0					NA																																												SO:0001628	intergenic_variant	0		Familial Cancer Database	IGAD1, IGAD2				g.chr17:16831075A>C	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262		17.37:g.16831075A>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	2694	-			NA					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	RNA	SNP	ENST00000437538.2	37																																																																																						0.632	TNFRSF13B-201	KNOWN	basic	protein_coding	protein_coding		0			17:16831075
CACNA1I	8911	broad.mit.edu	37	22	40060900	40060900	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:40060900C>T	ENST00000402142.3	+	21	3823	c.3823C>T	c.(3823-3825)Cgg>Tgg	p.R1275W	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1281W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1275					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGAGTCTTGCGGCTCCTGCG	0.637																																						ENST00000336649.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3841-3843)Cgg>Tgg		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						55.0	61.0	59.0					22																	40060900		2039	4170	6209	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060900C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3823C>T	22.37:g.40060900C>T	ENSP00000385019:p.Arg1275Trp	False	False		Somatic	0				CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1275W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W	p.R1281W			WXS	Illumina HiSeq	Phase_I	Q9P0X4	CAC1I_HUMAN			24	3841	+	Melanoma(58;0.0749)		1275					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3841C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198582	0.58126	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	4.3	3.27	0.37495	Ion transport (1);	0.062424	0.64402	D	0.000005	D	0.99548	0.9838	H	0.99732	4.735	0.51767	D	0.99993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97772	1.0227	10	0.87932	D	0	.	13.5507	0.61730	0.1567:0.8433:0.0:0.0	.	1240;1275;1240;1275	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	W	1275;1240;1275;1240;1281;1240	ENSP00000385019:R1275W;ENSP00000384093:R1240W;ENSP00000383887:R1275W;ENSP00000385680:R1240W;ENSP00000337829:R1281W;ENSP00000383028:R1240W	ENSP00000337829:R1281W	R	+	1	2	CACNA1I	38390846	0.828000	0.29307	1.000000	0.80357	0.393000	0.30537	0.692000	0.25482	0.791000	0.33826	0.462000	0.41574	CGG		0.637	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	NM_001003406		22:40060900
VAX1	11023	broad.mit.edu	37	10	118895992	118895992	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr10:118895992G>A	ENST00000369206.5	-	2	419	c.420C>T	c.(418-420)tcC>tcT	p.S140S	VAX1_ENST00000277905.2_Silent_p.S140S	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	140					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S140S(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTGGGTCTCGGAGAGGTTAA	0.652																																						ENST00000277905.2		NA																	1	Substitution - coding silent(1)	p.S140S(1)	ovary(1)	endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(418-420)tcC>tcT		ventral anterior homeobox 1							37.0	39.0	39.0					10																	118895992		2203	4300	6503	SO:0001819	synonymous_variant	11023					nucleus	sequence-specific DNA binding	g.chr10:118895992G>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.420C>T	10.37:g.118895992G>A		False	False		Somatic	0				VAX1_ENST00000369206.5_Silent_p.S140S	p.S140S	NM_199131.2	NP_954582.1	WXS	Illumina HiSeq	Phase_I	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	664	-			140					B1AVW5|Q6ZSX0	Silent	SNP	ENST00000369206.5	37	c.420C>T	CCDS44483.1																																																																																				0.652	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	0	XM_301242		10:118895992
NLRP7	199713	broad.mit.edu	37	19	55452821	55452821	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:55452821C>T	ENST00000590030.1	-	1	299	c.259G>A	c.(259-261)Gca>Aca	p.A87T	NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000446217.1_Missense_Mutation_p.A115T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	87	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGCCTTTGCCATCTTACAC	0.423																																						ENST00000446217.1		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(343-345)Gca>Aca		NLR family, pyrin domain containing 7							142.0	143.0	143.0					19																	55452821		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55452821C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.259G>A	19.37:g.55452821C>T	ENSP00000465520:p.Ala87Thr	False	False		Somatic	0				NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000590030.1_Missense_Mutation_p.A87T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T	p.A115T			WXS	Illumina HiSeq	Phase_I	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	745	-			87					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.343G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186220	0.38609	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	1.38	1.38	0.22167	Pyrin (2);DEATH-like (2);	1.450530	0.05136	N	0.493515	T	0.64757	0.2627	M	0.70595	2.14	0.09310	N	1	D;D;D;P	0.67145	0.996;0.996;0.996;0.947	D;D;D;P	0.69479	0.964;0.951;0.951;0.695	T	0.44892	-0.9298	10	0.72032	D	0.01	.	6.1849	0.20491	0.0:1.0:0.0:0.0	.	115;87;87;87	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	87;87;87;115;87	ENSP00000329568:A87T;ENSP00000409137:A87T;ENSP00000339491:A87T;ENSP00000414273:A115T	ENSP00000329568:A87T	A	-	1	0	NLRP7	60144633	0.030000	0.19436	0.002000	0.10522	0.029000	0.11900	1.832000	0.39151	1.055000	0.40461	0.462000	0.41574	GCA		0.423	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	0	NM_139176		19:55452821
ZNF470	388566	broad.mit.edu	37	19	57089047	57089047	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:57089047G>T	ENST00000330619.8	+	6	1936	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	417					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)	p.R417I(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGCATAAGAGAACTCATACT	0.418																																						ENST00000330619.8		NA																	1	Substitution - Missense(1)	p.R417I(1)	large_intestine(1)	endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1249-1251)aGa>aTa		zinc finger protein 470							82.0	84.0	83.0					19																	57089047		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089047G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1250G>T	19.37:g.57089047G>T	ENSP00000333223:p.Arg417Ile	False	False		Somatic	0				ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I	p.R417I	NM_001001668.3	NP_001001668.3	WXS	Illumina HiSeq	Phase_I	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1936	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	417					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1250G>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011176	0.35511	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.02446	4.29;4.29	4.26	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	L	0.60012	1.86	0.36453	D	0.866185	P	0.39717	0.684	B	0.35510	0.204	T	0.45891	-0.9230	9	0.54805	T	0.06	.	6.2006	0.20573	0.0973:0.0:0.7151:0.1876	.	417	Q6ECI4	ZN470_HUMAN	I	417	ENSP00000375590:R417I;ENSP00000333223:R417I	ENSP00000333223:R417I	R	+	2	0	ZNF470	61780859	0.612000	0.27000	0.991000	0.47740	0.222000	0.24845	3.579000	0.53900	0.965000	0.38133	0.650000	0.86243	AGA		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	0	NM_001001668		19:57089047
PHKA2	5256	broad.mit.edu	37	X	18961884	18961884	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:18961884G>A	ENST00000379942.4	-	7	1326	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	221					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGTCCTCCATGGGCTCCAAAA	0.458																																						ENST00000379942.4		NA																	0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(661-663)Cat>Tat		phosphorylase kinase, alpha 2 (liver)							198.0	162.0	174.0					X																	18961884		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18961884G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.661C>T	X.37:g.18961884G>A	ENSP00000369274:p.His221Tyr	True	False		Somatic	0					p.H221Y	NM_000292.2	NP_000283.1	WXS	Illumina HiSeq	Phase_I	P46019	KPB2_HUMAN			7	1326	-	Hepatocellular(33;0.183)		221					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.661C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579135	0.46006	.	.	ENSG00000044446	ENST00000379942	D	0.88975	-2.45	5.43	4.57	0.56435	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.141328	0.64402	N	0.000005	D	0.86973	0.6062	M	0.72894	2.215	0.53005	D	0.999968	B	0.02656	0.0	B	0.10450	0.005	T	0.82733	-0.0311	10	0.49607	T	0.09	-6.0265	9.6509	0.39897	0.0781:0.1382:0.7837:0.0	.	221	P46019	KPB2_HUMAN	Y	221	ENSP00000369274:H221Y	ENSP00000369274:H221Y	H	-	1	0	PHKA2	18871805	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	3.915000	0.56409	1.067000	0.40740	0.600000	0.82982	CAT		0.458	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	0	NM_000292		X:18961884
XIST	7503	broad.mit.edu	37	X	73071643	73071643	+	lincRNA	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:73071643G>A	ENST00000429829.1	-	0	945					NR_001564.2				X inactive specific transcript (non-protein coding)																		GAGTTATGCGGCAAGTCTAAA	0.493																																						ENST00000429829.1		NA																	0					NA															112.0	104.0	107.0					X																	73071643		876	1991	2867			0							g.chrX:73071643G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071643G>A		False	False		Somatic	0						NR_001564.2		WXS	Illumina HiSeq	Phase_I					0	945	-			NA						RNA	SNP	ENST00000429829.1	37																																																																																						0.493	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	0	NR_001564		X:73071643
GOLGA1	2800	broad.mit.edu	37	9	127690535	127690535	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:127690535C>G	ENST00000373555.4	-	6	664	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	111					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGAATGTCTCATTCTGCTCT	0.433																																						ENST00000373555.4		NA																	0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(331-333)Gag>Cag		golgin A1							120.0	95.0	104.0					9																	127690535		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127690535C>G	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.331G>C	9.37:g.127690535C>G	ENSP00000362656:p.Glu111Gln	False	False		Somatic	0					p.E111Q	NM_002077.3	NP_002068	WXS	Illumina HiSeq	Phase_I	Q92805	GOGA1_HUMAN			6	664	-			111					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.331G>C	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731633	0.89390	.	.	ENSG00000136935	ENST00000373555;ENST00000421514	T;T	0.18657	2.2;2.2	5.5	4.6	0.57074	.	0.145753	0.30781	U	0.008895	T	0.43322	0.1242	M	0.67953	2.075	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.27054	-1.0085	10	0.40728	T	0.16	-11.2738	13.4002	0.60879	0.0:0.9247:0.0:0.0753	.	10;111	Q59HA1;Q92805	.;GOGA1_HUMAN	Q	111	ENSP00000362656:E111Q;ENSP00000396966:E111Q	ENSP00000362656:E111Q	E	-	1	0	GOLGA1	126730356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.204000	0.77872	1.336000	0.45506	0.655000	0.94253	GAG		0.433	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	0	NM_002077		9:127690535
E2F8	79733	broad.mit.edu	37	11	19256510	19256510	+	Nonsense_Mutation	SNP	G	G	A	rs562160670		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:19256510G>A	ENST00000527884.1	-	5	779	c.547C>T	c.(547-549)Cga>Tga	p.R183*	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	183					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R183*(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGATTGTGTCGCCCGTGCCAA	0.463																																						ENST00000527884.1		NA																	1	Substitution - Nonsense(1)	p.R183*(1)	large_intestine(1)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(547-549)Cga>Tga		E2F transcription factor 8							112.0	92.0	98.0					11																	19256510		2199	4293	6492	SO:0001587	stop_gained	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256510G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.547C>T	11.37:g.19256510G>A	ENSP00000434199:p.Arg183*	True	False		Somatic	0				E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*|RP11-428C19.4_ENST00000527978.1_RNA	p.R183*	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina HiSeq	Phase_I	A0AVK6	E2F8_HUMAN			5	779	-			183					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Nonsense_Mutation	SNP	ENST00000527884.1	37	c.547C>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	41	8.598033	0.98879	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	.	.	.	5.48	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.748	9.211	0.37318	0.0759:0.0:0.7658:0.1583	.	.	.	.	X	183	.	ENSP00000250024:R183X	R	-	1	2	E2F8	19213086	1.000000	0.71417	0.990000	0.47175	0.703000	0.40648	2.374000	0.44274	1.245000	0.43885	0.655000	0.94253	CGA		0.463	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	0	NM_024680		11:19256510
CTNNA2	1496	broad.mit.edu	37	2	80136879	80136879	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:80136879G>A	ENST00000402739.4	+	6	1017	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V338M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	338					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.V338M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTGCAACGCCGTGCGGCAGGC	0.597																																						ENST00000466387.1		NA																	2	Substitution - Missense(2)	p.V338M(2)	large_intestine(2)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1012-1014)Gtg>Atg		catenin (cadherin-associated protein), alpha 2							43.0	50.0	48.0					2																	80136879		2087	4229	6316	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136879G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1012G>A	2.37:g.80136879G>A	ENSP00000384638:p.Val338Met	False	False		Somatic	0				CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M	p.V338M			WXS	Illumina HiSeq	Phase_I	P26232	CTNA2_HUMAN			11	1736	+			338					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1012G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.255998	0.95336	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.6	5.6	0.85130	.	0.077367	0.51477	D	0.000082	T	0.70386	0.3218	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.79108	0.992;0.965;0.94	T	0.74819	-0.3535	10	0.87932	D	0	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	338;338;338	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	338;338;372;338;338;338	ENSP00000418191:V338M;ENSP00000419295:V338M;ENSP00000355398:V372M;ENSP00000384638:V338M;ENSP00000444675:V338M;ENSP00000441705:V338M	ENSP00000355398:V372M	V	+	1	0	CTNNA2	79990390	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	9.803000	0.99136	2.652000	0.90054	0.591000	0.81541	GTG		0.597	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	0	NM_004389		2:80136879
OGDH	4967	broad.mit.edu	37	7	44747283	44747283	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:44747283G>A	ENST00000222673.5	+	22	2941	c.2899G>A	c.(2899-2901)Gac>Aac	p.D967N	OGDH_ENST00000447398.1_Missense_Mutation_p.D978N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N|OGDH_ENST00000449767.1_Missense_Mutation_p.D963N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	967					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGGCTACTATGACTACGTGAA	0.602																																						ENST00000222673.5		NA																	0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2899-2901)Gac>Aac		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						116.0	94.0	102.0					7																	44747283		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747283G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2899G>A	7.37:g.44747283G>A	ENSP00000222673:p.Asp967Asn	False	False		Somatic	0				OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N	p.D967N	NM_002541.3	NP_002532.2	WXS	Illumina HiSeq	Phase_I	Q02218	ODO1_HUMAN			22	2941	+			967					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2899G>A	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163705	0.78226	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.46	5.46	0.80206	.	0.045701	0.85682	D	0.000000	T	0.11495	0.0280	N	0.17278	0.47	0.80722	D	1	B;B;B;B;B	0.13145	0.002;0.007;0.001;0.002;0.002	B;B;B;B;B	0.12837	0.003;0.003;0.003;0.008;0.003	T	0.11494	-1.0585	10	0.42905	T	0.14	-41.9842	18.9009	0.92442	0.0:0.0:1.0:0.0	.	762;817;963;978;967	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	N	817;963;978;982;967;918	ENSP00000398576:D817N;ENSP00000392878:D963N;ENSP00000388183:D978N;ENSP00000414662:D982N;ENSP00000222673:D967N;ENSP00000443821:D918N	ENSP00000222673:D967N	D	+	1	0	OGDH	44713808	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.889000	0.87307	2.560000	0.86352	0.491000	0.48974	GAC		0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	0			7:44747283
SLC41A3	54946	broad.mit.edu	37	3	125734346	125734346	+	Missense_Mutation	SNP	C	C	T	rs138712564		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:125734346C>T	ENST00000315891.6	-	8	1199	c.961G>A	c.(961-963)Gtc>Atc	p.V321I	SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I|SLC41A3_ENST00000383598.2_Missense_Mutation_p.V295I|SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCACATATGACGGGGGTAAAT	0.517																																						ENST00000383598.2		NA																	0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(883-885)Gtc>Atc		solute carrier family 41, member 3		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	217.0	183.0	194.0		961,853,883,610,961	-0.3	0.1	3	dbSNP_134	194	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	SLC41A3	NM_001008485.1,NM_001008486.1,NM_001008487.1,NM_001164475.1,NM_017836.3	29,29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign,benign,benign	321/508,285/472,295/462,204/371,321/488	125734346	3,13003	2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125734346C>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.961G>A	3.37:g.125734346C>T	ENSP00000326070:p.Val321Ile	True	False		Somatic	0				SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000315891.6_Missense_Mutation_p.V321I|SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I	p.V295I	NM_001008487.1	NP_001008487.1	WXS	Illumina HiSeq	Phase_I	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	7	1168	-			321					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.883G>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	C	5.067	0.198048	0.09652	0.0	3.49E-4	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.54	-0.338	0.12651	MgtE magnesium transporter, integral membrane (1);	0.251067	0.38326	N	0.001725	T	0.13884	0.0336	N	0.13327	0.33	0.40992	D	0.984868	B;B;B;B;B	0.30851	0.012;0.113;0.074;0.297;0.021	B;B;B;B;B	0.28305	0.021;0.062;0.036;0.088;0.023	T	0.10451	-1.0629	10	0.30854	T	0.27	-0.0495	7.2713	0.26258	0.0:0.4217:0.0:0.5783	.	204;321;285;321;295	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	I	321;285;295;312;321;204	ENSP00000353533:V321I;ENSP00000264471:V285I;ENSP00000373092:V295I;ENSP00000326070:V321I;ENSP00000427409:V204I	ENSP00000326070:V321I	V	-	1	0	SLC41A3	127217036	0.137000	0.22531	0.054000	0.19295	0.012000	0.07955	0.556000	0.23438	-0.177000	0.10690	-0.218000	0.12543	GTC		0.517	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	0	NM_017836		3:125734346
ASGR2	433	broad.mit.edu	37	17	7010342	7010342	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7010342C>T	ENST00000380952.2	-	7	904	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I|ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	214	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GAGTTGATGACCACCAGGTGT	0.607																																						ENST00000380952.2		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(640-642)Gtc>Atc		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						102.0	88.0	93.0					17																	7010342		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7010342C>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.640G>A	17.37:g.7010342C>T	ENSP00000370339:p.Val214Ile	False	False		Somatic	0				ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I|ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I	p.V214I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	WXS	Illumina HiSeq	Phase_I	P07307	ASGR2_HUMAN			7	904	-			214			C-type lectin.		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.640G>A	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969611	0.74246	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	4.45	4.45	0.53987	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.40064	N	0.001193	T	0.21962	0.0529	N	0.17594	0.5	0.29055	N	0.88428	D;D;P;P;P	0.63880	0.993;0.977;0.787;0.747;0.894	D;D;P;P;D	0.79108	0.992;0.958;0.799;0.735;0.93	T	0.05818	-1.0862	10	0.13108	T	0.6	.	12.9277	0.58270	0.0:1.0:0.0:0.0	.	190;214;209;195;214	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	I	214;190;214;195	ENSP00000347140:V214I;ENSP00000254850:V190I;ENSP00000370339:V214I;ENSP00000405844:V195I	ENSP00000254850:V190I	V	-	1	0	ASGR2	6951066	0.695000	0.27747	0.999000	0.59377	0.873000	0.50193	0.624000	0.24462	2.175000	0.68902	0.609000	0.83330	GTC		0.607	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	0	NM_080914		17:7010342
ZNF182	7569	broad.mit.edu	37	X	47835701	47835701	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:47835701C>G	ENST00000396965.1	-	7	2135	c.1785G>C	c.(1783-1785)gaG>gaC	p.E595D	ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D|ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	595					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)	p.E595D(1)|p.E576D(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATAGGGTTTCTCTCCAGTAT	0.443																																						ENST00000396965.1		NA																	2	Substitution - Missense(2)	p.E595D(1)|p.E576D(1)	endometrium(2)	endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(1783-1785)gaG>gaC		zinc finger protein 182							119.0	102.0	108.0					X																	47835701		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47835701C>G	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1785G>C	X.37:g.47835701C>G	ENSP00000380165:p.Glu595Asp	True	False		Somatic	0				ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D|ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D	p.E595D	NM_001178099.1	NP_001171570.1	WXS	Illumina HiSeq	Phase_I	P17025	ZN182_HUMAN			7	2135	-			595					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.1785G>C	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395798	0.42512	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.26810	1.71;1.71;1.71	4.86	4.86	0.63082	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40247	0.1109	L	0.48935	1.535	0.34356	D	0.690386	D;P;D	0.60575	0.987;0.861;0.988	P;P;P	0.59595	0.857;0.795;0.86	T	0.53648	-0.8409	9	0.66056	D	0.02	.	14.5199	0.67844	0.0:1.0:0.0:0.0	.	575;576;595	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	D	576;595;595	ENSP00000366142:E576D;ENSP00000380165:E595D;ENSP00000306351:E595D	ENSP00000306351:E595D	E	-	3	2	ZNF182	47720645	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.087000	0.30865	2.397000	0.81536	0.544000	0.68410	GAG		0.443	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	0	NM_006962		X:47835701
APC	324	broad.mit.edu	37	5	112175046	112175046	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:112175046C>A	ENST00000457016.1	+	16	4135	c.3755C>A	c.(3754-3756)tCt>tAt	p.S1252Y	APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1252	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGCAAAGTTTCTTCTATTAAC	0.393		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(3754-3756)tCt>tAt		adenomatous polyposis coli							47.0	49.0	48.0					5																	112175046		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175046C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3755C>A	5.37:g.112175046C>A	ENSP00000413133:p.Ser1252Tyr	True	False	TSP Lung(16;0.13)	Somatic	0				APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y	p.S1252Y			WXS	Illumina HiSeq	Phase_I	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4135	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1252			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.3755C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503801	0.26949	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90444	-2.49;-2.49;-2.49;-2.67	5.83	5.83	0.93111	.	0.153741	0.45606	D	0.000360	T	0.80954	0.4723	N	0.08118	0	0.22803	N	0.998713	B;B	0.13145	0.0;0.007	B;B	0.08055	0.0;0.003	T	0.62515	-0.6838	9	.	.	.	-1.3032	16.4069	0.83677	0.132:0.868:0.0:0.0	.	1254;1252	Q4LE70;P25054	.;APC_HUMAN	Y	1252	ENSP00000413133:S1252Y;ENSP00000257430:S1252Y;ENSP00000427089:S1252Y;ENSP00000423828:S1252Y	.	S	+	2	0	APC	112202945	0.994000	0.37717	0.997000	0.53966	0.982000	0.71751	5.284000	0.65627	2.756000	0.94617	0.655000	0.94253	TCT		0.393	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	0	NM_000038		5:112175046
ZNF83	55769	broad.mit.edu	37	19	53117004	53117004	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:53117004G>A	ENST00000597597.1	-	2	3067	c.814C>T	c.(814-816)Cat>Tat	p.H272Y	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y			P51522	ZNF83_HUMAN	zinc finger protein 83	272					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(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGTGAAATATGATGGAAGACC	0.418																																						ENST00000597597.1		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(814-816)Cat>Tat		zinc finger protein 83							84.0	77.0	80.0					19																	53117004		2193	4268	6461	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117004G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.814C>T	19.37:g.53117004G>A	ENSP00000472619:p.His272Tyr	False	False		Somatic	0				ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000601257.1_Intron	p.H272Y			WXS	Illumina HiSeq	Phase_I	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3067	-			272					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.814C>T	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	0.067	-1.211291	0.01555	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000545872;ENST00000541777	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	1.64	-3.27	0.05048	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.16903	0.455	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.46470	-0.9189	9	0.16896	T	0.51	.	1.1943	0.01871	0.4524:0.1528:0.2408:0.154	.	272	P51522	ZNF83_HUMAN	Y	272	ENSP00000445993:H272Y;ENSP00000301096:H272Y;ENSP00000445470:H272Y;ENSP00000440713:H272Y;ENSP00000439681:H272Y	ENSP00000301096:H272Y	H	-	1	0	ZNF83	57808816	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.434000	0.01021	-1.221000	0.02591	0.411000	0.27672	CAT		0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	0	NM_018300		19:53117004
PCDHA12	56137	broad.mit.edu	37	5	140255222	140255222	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:140255222G>T	ENST00000398631.2	+	1	165	c.165G>T	c.(163-165)gaG>gaT	p.E55D	PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGGAGCTGGCGGAGC	0.622																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2		NA																	0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(163-165)gaG>gaT									37.0	46.0	43.0					5																	140255222		2201	4291	6492	SO:0001583	missense	0							g.chr5:140255222G>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.165G>T	5.37:g.140255222G>T	ENSP00000381628:p.Glu55Asp	False	False		Somatic	0				PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	p.E55D	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	165	+			NA					O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.165G>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	5.879	0.346353	0.11126	.	.	ENSG00000251664	ENST00000398631	T	0.27720	1.65	5.18	2.41	0.29592	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.19087	0.0458	N	0.25957	0.775	0.18873	N	0.999988	B;B	0.13145	0.003;0.007	B;B	0.19391	0.005;0.025	T	0.24440	-1.0160	9	0.29301	T	0.29	.	5.0153	0.14333	0.2994:0.0:0.5659:0.1347	.	55;55	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	D	55	ENSP00000381628:E55D	ENSP00000381628:E55D	E	+	3	2	PCDHA12	140235406	0.000000	0.05858	0.975000	0.42487	0.708000	0.40852	-0.297000	0.08276	0.587000	0.29643	0.591000	0.81541	GAG		0.622	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	0	NM_018903		5:140255222
TPO	7173	broad.mit.edu	37	2	1497609	1497609	+	Missense_Mutation	SNP	C	C	T	rs372225161		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:1497609C>T	ENST00000345913.4	+	11	1895	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					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)	CGGCCTGCCTCGCCTGGAGAC	0.572																																						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.(1804-1806)Cgc>Tgc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	52.0	48.0	49.0		1804,1804,1633,1633,1804,1285	-0.9	0.0	2		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	602/934,602/934,545/877,545/877,602/890,429/761	1497609	1,13005	2203	4300	6503	SO:0001583	missense	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.chr2:1497609C>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.1804C>T	2.37:g.1497609C>T	ENSP00000318820:p.Arg602Cys	True	False		Somatic	0				TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.R602C	p.R602C	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)	11	1895	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	602					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1804C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795939	0.31777	0.0	1.16E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.84	-0.86	0.10680	.	0.089088	0.64402	D	0.000001	D	0.84552	0.5497	H	0.94306	3.52	0.19300	N	0.999975	D;D;D;D	0.89917	1.0;0.967;1.0;1.0	D;B;D;D	0.78314	0.984;0.386;0.976;0.991	T	0.75462	-0.3309	10	0.87932	D	0	-13.2581	7.6609	0.28402	0.4098:0.4419:0.1484:0.0	.	602;429;545;602	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	C	602;602;602;429;602;545;429;531;76	ENSP00000337263:R602C;ENSP00000318820:R602C;ENSP00000263886:R602C;ENSP00000332044:R429C;ENSP00000329869:R602C;ENSP00000371636:R545C;ENSP00000371633:R429C;ENSP00000405788:R531C;ENSP00000419461:R76C	ENSP00000329869:R602C	R	+	1	0	TPO	1476616	0.002000	0.14202	0.000000	0.03702	0.088000	0.18126	1.273000	0.33121	-0.338000	0.08413	0.561000	0.74099	CGC		0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	NM_000547		2:1497609
CHRNA2	1135	broad.mit.edu	37	8	27320780	27320780	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:27320780G>A	ENST00000520933.2	-	5	1333	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R394C			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	394					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	AGCTTCAGGCGTAGGGGGTGG	0.667																																						ENST00000407991.1		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1180-1182)Cgc>Tgc		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						61.0	56.0	57.0					8																	27320780		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27320780G>A	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1180C>T	8.37:g.27320780G>A	ENSP00000429616:p.Arg394Cys	False	False		Somatic	0				CHRNA2_ENST00000520933.2_Missense_Mutation_p.R394C|CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C	p.R394C	NM_000742.3	NP_000733.2	WXS	Illumina HiSeq	Phase_I	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	6	1788	-		Ovarian(32;2.61e-05)	394					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.1180C>T	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	G	4.877	0.162980	0.09287	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.71222	-0.55;-0.55;-0.55	5.03	3.25	0.37280	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.230070	0.05296	N	0.522105	T	0.68933	0.3055	M	0.76433	2.335	0.09310	N	1	P;B	0.48089	0.905;0.108	B;B	0.36719	0.231;0.03	T	0.58205	-0.7677	10	0.56958	D	0.05	.	8.6291	0.33908	0.0:0.7597:0.1553:0.085	.	379;394	B4DK19;Q15822	.;ACHA2_HUMAN	C	394;394;379	ENSP00000385026:R394C;ENSP00000429616:R394C;ENSP00000240132:R379C	ENSP00000240132:R379C	R	-	1	0	CHRNA2	27376697	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	1.600000	0.36762	0.720000	0.32209	-1.021000	0.02439	CGC		0.667	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4	0			8:27320780
PEG10	23089	broad.mit.edu	37	7	94293374	94293374	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:94293374G>A	ENST00000482108.1	+	2	985	c.506G>A	c.(505-507)cGc>cAc	p.R169H	PEG10_ENST00000488574.1_Missense_Mutation_p.R169H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	169	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTGCCAAACGCAAGATCAGA	0.542																																						ENST00000482108.1		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(505-507)cGc>cAc		paternally expressed 10							140.0	146.0	144.0					7																	94293374		2013	4172	6185	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293374G>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.506G>A	7.37:g.94293374G>A	ENSP00000417587:p.Arg169His	False	False		Somatic	0				PEG10_ENST00000488574.1_Missense_Mutation_p.R169H	p.R169H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	WXS	Illumina HiSeq	Phase_I	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	985	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		169			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.506G>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064561	0.55432	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.14766	2.48;2.48	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.26195	0.0639	L	0.35854	1.095	0.25927	N	0.983049	D;D	0.89917	0.999;1.0	D;D	0.81914	0.971;0.995	T	0.03287	-1.1052	9	0.48119	T	0.1	.	11.9358	0.52872	0.0:0.0:1.0:0.0	.	245;169	B4DSP0;Q86TG7	.;PEG10_HUMAN	H	169	ENSP00000417587:R169H;ENSP00000418944:R169H	ENSP00000417587:R169H	R	+	2	0	PEG10	94131310	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	2.457000	0.45005	2.276000	0.75962	0.555000	0.69702	CGC		0.542	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	0	NM_015068		7:94293374
PDE3A	5139	broad.mit.edu	37	12	20774340	20774340	+	Missense_Mutation	SNP	G	G	A	rs185449585		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:20774340G>A	ENST00000359062.3	+	5	1575	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	512					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AAGCAAAGTCGACCAGGTAAG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.001		0.0	False		,,,				2504	0.0					ENST00000359062.3		NA																	0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1534-1536)cGa>cAa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						81.0	71.0	74.0					12																	20774340		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20774340G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1535G>A	12.37:g.20774340G>A	ENSP00000351957:p.Arg512Gln	False	False		Somatic	0				PDE3A_ENST00000544307.1_3'UTR	p.R512Q	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	WXS	Illumina HiSeq	Phase_I	Q14432	PDE3A_HUMAN			5	1575	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	512					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1535G>A	CCDS31754.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.7	4.765502	0.90020	.	.	ENSG00000172572	ENST00000359062	T	0.51574	0.7	5.37	4.46	0.54185	.	1.750830	0.03388	N	0.201351	T	0.60117	0.2244	L	0.55481	1.735	0.41511	D	0.988349	D	0.71674	0.998	P	0.51229	0.663	T	0.41215	-0.9521	10	0.72032	D	0.01	.	13.5478	0.61715	0.0:0.0:0.844:0.156	.	512	Q14432	PDE3A_HUMAN	Q	512	ENSP00000351957:R512Q	ENSP00000351957:R512Q	R	+	2	0	PDE3A	20665607	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	6.227000	0.72282	1.222000	0.43521	0.591000	0.81541	CGA		0.418	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	0			12:20774340
CEP290	80184	broad.mit.edu	37	12	88512344	88512344	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:88512344C>T	ENST00000552810.1	-	17	1970	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CEP290_ENST00000309041.7_Missense_Mutation_p.E545K|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	543					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTAGACTTTCAATCTGCAAA	0.333																																						ENST00000552810.1		NA																	0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1627-1629)Gaa>Aaa		centrosomal protein 290kDa							67.0	59.0	62.0					12																	88512344		1799	4051	5850	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88512344C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1627G>A	12.37:g.88512344C>T	ENSP00000448012:p.Glu543Lys	True	False		Somatic	0				CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E545K	p.E543K	NM_025114.3	NP_079390.3	WXS	Illumina HiSeq	Phase_I	O15078	CE290_HUMAN			17	1970	-			543					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1627G>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220537	0.95139	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.66099	-0.17;-0.19	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75019	0.3793	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.68123	-0.5492	10	0.07175	T	0.84	.	19.4827	0.95016	0.0:1.0:0.0:0.0	.	543;543	Q05BJ6;O15078	.;CE290_HUMAN	K	543;545;543;445	ENSP00000448012:E543K;ENSP00000308021:E545K	ENSP00000308021:E545K	E	-	1	0	CEP290	87036475	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.443000	0.66581	2.601000	0.87937	0.585000	0.79938	GAA		0.333	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	0	NM_025114		12:88512344
B3GALT4	8705	broad.mit.edu	37	6	33245960	33245960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:33245960G>A	ENST00000451237.1	+	1	1044	c.764G>A	c.(763-765)tGg>tAg	p.W255*		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	255					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCTCACACCTGGGGCCCCTTT	0.657																																						ENST00000451237.1		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(763-765)tGg>tAg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							43.0	47.0	45.0					6																	33245960		2203	4300	6503	SO:0001587	stop_gained	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245960G>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.764G>A	6.37:g.33245960G>A	ENSP00000390784:p.Trp255*	True	False		Somatic	0					p.W255*	NM_003782.3	NP_003773.1	WXS	Illumina HiSeq	Phase_I	O96024	B3GT4_HUMAN			1	1044	+			255						Nonsense_Mutation	SNP	ENST00000451237.1	37	c.764G>A	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	37	6.137213	0.97315	.	.	ENSG00000235863	ENST00000451237	.	.	.	4.49	3.59	0.41128	.	0.802843	0.11090	N	0.600823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	11.062	0.47953	0.0:0.0:0.7952:0.2047	.	.	.	.	X	255	.	ENSP00000390784:W255X	W	+	2	0	B3GALT4	33353938	1.000000	0.71417	0.984000	0.44739	0.778000	0.44026	4.291000	0.59025	1.043000	0.40175	0.643000	0.83706	TGG		0.657	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2	0			6:33245960
ABTB2	25841	broad.mit.edu	37	11	34184254	34184254	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:34184254G>A	ENST00000435224.2	-	10	2511	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	696					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGGCTCGACGCATCACTTTC	0.657																																						ENST00000435224.2		NA																	0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2086-2088)gCg>gTg		ankyrin repeat and BTB (POZ) domain containing 2							74.0	60.0	65.0					11																	34184254		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34184254G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2087C>T	11.37:g.34184254G>A	ENSP00000410157:p.Ala696Val	False	False		Somatic	0				ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V	p.A696V	NM_145804.2	NP_665803.2	WXS	Illumina HiSeq	Phase_I	A8K6S9	A8K6S9_HUMAN			10	2511	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	510					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2087C>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	7.719	0.696873	0.15106	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60171	0.21;0.21	5.11	4.18	0.49190	.	0.887861	0.09993	N	0.729498	T	0.46658	0.1404	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.31779	-0.9931	10	0.30078	T	0.28	-19.4398	15.1479	0.72674	0.0:0.1422:0.8578:0.0	.	510	Q8N961	ABTB2_HUMAN	V	696;510	ENSP00000410157:A696V;ENSP00000298992:A510V	ENSP00000298992:A510V	A	-	2	0	ABTB2	34140830	0.467000	0.25831	0.001000	0.08648	0.013000	0.08279	3.582000	0.53921	1.128000	0.42052	0.655000	0.94253	GCG		0.657	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	0	NM_145804		11:34184254
CNBD1	168975	broad.mit.edu	37	8	88249204	88249204	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:88249204A>G	ENST00000518476.1	+	6	686	c.635A>G	c.(634-636)aAc>aGc	p.N212S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	212										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CCTCAAACAAACGTGTATAAA	0.368																																						ENST00000518476.1		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(634-636)aAc>aGc		cyclic nucleotide binding domain containing 1							147.0	132.0	137.0					8																	88249204		1840	4084	5924	SO:0001583	missense	168975							g.chr8:88249204A>G	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.635A>G	8.37:g.88249204A>G	ENSP00000430073:p.Asn212Ser	True	False		Somatic	0				CNBD1_ENST00000522427.1_3'UTR	p.N212S	NM_173538.2	NP_775809.1	WXS	Illumina HiSeq	Phase_I	Q8NA66	CNBD1_HUMAN			6	686	+			212						Missense_Mutation	SNP	ENST00000518476.1	37	c.635A>G	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	3.275	-0.148197	0.06627	.	.	ENSG00000176571	ENST00000518476	T	0.16743	2.32	4.29	-2.76	0.05896	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	1.950470	0.02259	N	0.067417	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.25502	-1.0130	10	0.12103	T	0.63	0.0587	5.5245	0.16951	0.3422:0.4741:0.1837:0.0	.	212	Q8NA66	CNBD1_HUMAN	S	212	ENSP00000430073:N212S	ENSP00000430073:N212S	N	+	2	0	CNBD1	88318320	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.060000	0.14342	-0.458000	0.07023	0.533000	0.62120	AAC		0.368	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	0	NM_173538		8:88249204
MLXIPL	51085	broad.mit.edu	37	7	73010006	73010006	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:73010006G>A	ENST00000313375.3	-	15	2318	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	MLXIPL_ENST00000354613.1_Silent_p.Y736Y|MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000414749.2_Silent_p.Y755Y|MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	757					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGTTCGGACGTAGTCATCAA	0.632																																						ENST00000313375.3		NA																	0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(2269-2271)taC>taT		MLX interacting protein-like							131.0	119.0	123.0					7																	73010006		2203	4300	6503	SO:0001819	synonymous_variant	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010006G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2271C>T	7.37:g.73010006G>A		False	False		Somatic	0				MLXIPL_ENST00000354613.1_Silent_p.Y736Y|MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000414749.2_Silent_p.Y755Y|MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y	p.Y757Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	WXS	Illumina HiSeq	Phase_I	Q9NP71	WBS14_HUMAN			15	2318	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	757					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	37	c.2271C>T	CCDS5553.1																																																																																				0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	0	NM_032951		7:73010006
PIKFYVE	200576	broad.mit.edu	37	2	209190426	209190426	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:209190426C>T	ENST00000264380.4	+	20	3049	c.2891C>T	c.(2890-2892)cCg>cTg	p.P964L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	964					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.P964L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGCTTGCCCGGCGGGTCTC	0.502																																						ENST00000264380.4		NA																	1	Substitution - Missense(1)	p.P964L(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2890-2892)cCg>cTg		phosphoinositide kinase, FYVE finger containing							66.0	65.0	65.0					2																	209190426		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190426C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2891C>T	2.37:g.209190426C>T	ENSP00000264380:p.Pro964Leu	True	False		Somatic	0					p.P964L	NM_015040.3	NP_055855.2	WXS	Illumina HiSeq	Phase_I	Q9Y2I7	FYV1_HUMAN			20	3049	+			964					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2891C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	6.701	0.498060	0.12762	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.27890	1.64;1.81	6.07	4.22	0.49857	.	0.284775	0.28187	N	0.016268	T	0.23926	0.0579	L	0.56769	1.78	0.52099	D	0.999943	B;B	0.28880	0.226;0.031	B;B	0.17098	0.017;0.006	T	0.05533	-1.0879	10	0.21014	T	0.42	-1.1002	6.4434	0.21863	0.1432:0.6971:0.0:0.1596	.	964;908	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	L	964;540;908	ENSP00000264380:P964L;ENSP00000405736:P908L	ENSP00000264380:P964L	P	+	2	0	PIKFYVE	208898671	0.000000	0.05858	0.381000	0.26106	0.040000	0.13550	0.619000	0.24388	0.830000	0.34757	0.650000	0.86243	CCG		0.502	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	0	NM_015040		2:209190426
HEATR2	54919	broad.mit.edu	37	7	794231	794231	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:794231C>T	ENST00000297440.6	+	5	1050	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	344						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCAGAGCGCCGCCCTGTGCT	0.547																																						ENST00000297440.6		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1030-1032)Cgc>Tgc		HEAT repeat containing 2							126.0	139.0	135.0					7																	794231		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:794231C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1030C>T	7.37:g.794231C>T	ENSP00000297440:p.Arg344Cys	False	False		Somatic	0				HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C	p.R344C	NM_017802.3	NP_060272.3	WXS	Illumina HiSeq	Phase_I	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	5	1050	+		Ovarian(82;0.0112)	344					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1030C>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.25|17.25	3.342614|3.342614	0.61073|0.61073	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000437419;ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.73789	.|-0.78;-0.77	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.130641	.|0.52532	.|D	.|0.000078	D|D	0.86581|0.86581	0.5967|0.5967	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.986;0.994	D|D	0.88188|0.88188	0.2875|0.2875	5|10	.|0.87932	.|D	.|0	-46.9262|-46.9262	14.3636|14.3636	0.66789|0.66789	0.1481:0.8519:0.0:0.0|0.1481:0.8519:0.0:0.0	.|.	.|344;90	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	L|C	116;145|344;344;90	.|ENSP00000297440:R344C;ENSP00000321451:R344C	.|ENSP00000297440:R344C	P|R	+|+	2|1	0|0	HEATR2|HEATR2	760757|760757	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.044000|0.044000	0.14063|0.14063	5.258000|5.258000	0.65479|0.65479	2.603000|2.603000	0.88011|0.88011	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.547	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	0	NM_017802		7:794231
RBFOX1	54715	broad.mit.edu	37	16	7703894	7703894	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr16:7703894G>A	ENST00000550418.1	+	12	1823	c.835G>A	c.(835-837)Gtg>Atg	p.V279M	RBFOX1_ENST00000422070.4_Missense_Mutation_p.V322M|RBFOX1_ENST00000340209.4_Missense_Mutation_p.V284M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V299M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V299M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V299M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V322M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V236M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V252M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V296M	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	279					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.V299M(2)|p.V279M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGTCGCACCGTGTACAACAC	0.741																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4		NA																	3	Substitution - Missense(3)	p.V299M(2)|p.V279M(1)	kidney(3)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(850-852)Gtg>Atg		RNA binding protein, fox-1 homolog (C. elegans) 1							11.0	14.0	13.0					16																	7703894		1886	3889	5775	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703894G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.835G>A	16.37:g.7703894G>A	ENSP00000450031:p.Val279Met	False	False		Somatic	0				RBFOX1_ENST00000355637.4_Missense_Mutation_p.V299M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V296M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V322M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V299M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V322M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V252M|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V299M|RBFOX1_ENST00000550418.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V236M	p.V284M			WXS	Illumina HiSeq	Phase_I	Q9NWB1	RFOX1_HUMAN			9	1147	+			279					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.850G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	g	27.2	4.811473	0.90707	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T	0.37411	1.2;1.56;1.53;1.49;1.2;1.36;1.52;1.57;1.2	4.25	4.25	0.50352	.	0.206066	0.40385	N	0.001117	T	0.57417	0.2052	M	0.64997	1.995	0.50813	D	0.999893	D;D;D;P;P;D;D;D;D	0.89917	1.0;1.0;1.0;0.746;0.884;1.0;1.0;1.0;1.0	D;D;D;B;P;D;D;D;D	0.87578	0.968;0.998;0.997;0.14;0.618;0.996;0.992;0.994;0.993	T	0.58934	-0.7548	9	.	.	.	-7.8987	17.0189	0.86428	0.0:0.0:1.0:0.0	.	272;236;322;299;299;299;252;279;322	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	M	279;252;322;322;236;296;279;299;299;299;272;284	ENSP00000450031:V279M;ENSP00000447753:V252M;ENSP00000446842:V322M;ENSP00000391269:V322M;ENSP00000447717:V279M;ENSP00000402745:V299M;ENSP00000309117:V299M;ENSP00000347855:V299M;ENSP00000344196:V284M	.	V	+	1	0	RBFOX1	7643895	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.439000	0.97543	2.076000	0.62316	0.401000	0.26515	GTG		0.741	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	0	NM_145891		16:7703894
TP53	7157	broad.mit.edu	37	17	7577555	7577555	+	Nonsense_Mutation	SNP	G	G	T	rs397516437|rs375874539		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7577555G>T	ENST00000269305.4	-	7	915	c.726C>A	c.(724-726)tgC>tgA	p.C242*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C242*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	TGCCGCCCATGCAGGAACTGT	0.582		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"""		37	Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(7)|Unknown(5)|Substitution - Nonsense(3)|Deletion - Frameshift(3)|Substitution - coding silent(2)|Complex - deletion inframe(1)	p.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	biliary_tract(6)|breast(5)|bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|liver(2)|cervix(1)|urinary_tract(1)|ovary(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.(724-726)tgC>tgA	Other conserved DNA damage response genes	tumor protein p53							140.0	108.0	119.0					17																	7577555		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577555G>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.726C>A	17.37:g.7577555G>T	ENSP00000269305:p.Cys242*	False	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_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C242*	p.C242*	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)	7	858	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		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 -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.726C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701385	0.68501	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	4.62	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.558	7.3895	0.26901	0.195:0.0:0.805:0.0	.	.	.	.	X	242;242;242;242;242;242;231;149;110;149	.	ENSP00000269305:C242X	C	-	3	2	TP53	7518280	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.984000	0.40658	1.305000	0.44909	0.462000	0.41574	TGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577555
MAP6	4135	broad.mit.edu	37	11	75298708	75298708	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:75298708G>A	ENST00000304771.3	-	4	2588	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	MAP6_ENST00000526740.1_Missense_Mutation_p.P284L|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	613	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCCTTGACAGGTGCTGGGAC	0.537																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1837-1839)cCt>cTt		microtubule-associated protein 6							171.0	152.0	158.0					11																	75298708		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298708G>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1838C>T	11.37:g.75298708G>A	ENSP00000307093:p.Pro613Leu	False	False		Somatic	0				MAP6_ENST00000526740.1_Missense_Mutation_p.P284L|CTD-2530H12.4_ENST00000527803.1_RNA	p.P613L	NM_033063.1	NP_149052.1	WXS	Illumina HiSeq	Phase_I	Q96JE9	MAP6_HUMAN			4	2588	-	Ovarian(111;0.11)		613			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1838C>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505538	0.26949	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.48836	0.8	4.42	1.37	0.22104	.	.	.	.	.	T	0.40473	0.1118	L	0.58810	1.83	0.18873	N	0.999982	B	0.12013	0.005	B	0.12156	0.007	T	0.31308	-0.9948	9	0.35671	T	0.21	0.8809	6.9282	0.24426	0.0869:0.0:0.6059:0.3071	.	613	Q96JE9	MAP6_HUMAN	L	613;284;284	ENSP00000307093:P613L	ENSP00000307093:P613L	P	-	2	0	MAP6	74976356	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.147000	0.16202	0.195000	0.20347	0.435000	0.28638	CCT		0.537	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	0	NM_033063		11:75298708
CADPS2	93664	broad.mit.edu	37	7	122377080	122377080	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:122377080C>A	ENST00000449022.2	-	2	401	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S|CADPS2_ENST00000334010.7_Missense_Mutation_p.A128S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	128					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTGAGGAAGGCCTGGAACCGT	0.383																																						ENST00000334010.7		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(382-384)Gcc>Tcc		Ca++-dependent secretion activator 2							97.0	89.0	91.0					7																	122377080		1865	4119	5984	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122377080C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.382G>T	7.37:g.122377080C>A	ENSP00000398481:p.Ala128Ser	False	False		Somatic	0				CADPS2_ENST00000449022.2_Missense_Mutation_p.A128S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S	p.A128S	NM_001167940.1	NP_001161412.1	WXS	Illumina HiSeq	Phase_I	Q86UW7	CAPS2_HUMAN			2	803	-			128					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.382G>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542347	0.27563	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.64	5.64	0.86602	.	0.176929	0.49305	D	0.000151	T	0.60573	0.2279	N	0.05259	-0.085	0.53688	D	0.99997	B;B	0.25351	0.003;0.124	B;B	0.17979	0.014;0.02	T	0.59456	-0.7451	10	0.13853	T	0.58	-8.3102	13.6306	0.62193	0.1547:0.8453:0.0:0.0	.	128;128	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	S	128;128;128;95;128;128	ENSP00000325581:A128S;ENSP00000333940:A128S;ENSP00000400401:A128S;ENSP00000398481:A128S	ENSP00000325581:A128S	A	-	1	0	CADPS2	122164316	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.736000	0.55052	2.631000	0.89168	0.585000	0.79938	GCC		0.383	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	0	NM_017954		7:122377080
FAHD2B	151313	broad.mit.edu	37	2	97751522	97751522	+	Missense_Mutation	SNP	C	C	T	rs138523783	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:97751522C>T	ENST00000414820.1	-	6	869	c.599G>A	c.(598-600)cGc>cAc	p.R200H	FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H|FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H|FAHD2B_ENST00000468548.1_5'Flank			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	200							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TTTCCCATTGCGTCTTGTTAG	0.597																																						ENST00000414820.1		NA																	0				kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						c.(598-600)cGc>cAc		fumarylacetoacetate hydrolase domain containing 2B		C	HIS/ARG	0,4406		0,0,2203	135.0	118.0	124.0		599	0.6	0.5	2	dbSNP_134	124	5,8595	4.3+/-15.6	0,5,4295	no	missense	FAHD2B	NM_199336.1	29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging	200/315	97751522	5,13001	2203	4300	6503	SO:0001583	missense	151313						hydrolase activity|metal ion binding	g.chr2:97751522C>T		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.599G>A	2.37:g.97751522C>T	ENSP00000410470:p.Arg200His	False	False		Somatic	0				FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H|FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H	p.R200H			WXS	Illumina HiSeq	Phase_I	Q6P2I3	FAH2B_HUMAN			6	869	-			200					D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	37	c.599G>A	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004787	0.35320	0.0	5.81E-4	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.94758	-3.51;-3.51;-3.51	0.624	0.624	0.17659	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.122834	0.49916	N	0.000132	D	0.94666	0.8280	M	0.62088	1.915	0.41529	D	0.988442	D	0.89917	1.0	D	0.74348	0.983	D	0.91640	0.5326	10	0.59425	D	0.04	.	3.009	0.06038	0.0:0.6463:0.0:0.3537	.	200	Q6P2I3	FAH2B_HUMAN	H	200	ENSP00000410470:R200H;ENSP00000272610:R200H;ENSP00000444599:R200H	ENSP00000272610:R200H	R	-	2	0	FAHD2B	97115249	0.695000	0.27747	0.493000	0.27502	0.135000	0.20990	2.196000	0.42686	0.587000	0.29643	0.306000	0.20318	CGC		0.597	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	0	NM_199336		2:97751522
GRIK3	2899	broad.mit.edu	37	1	37346362	37346362	+	Silent	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:37346362C>A	ENST00000373091.3	-	3	439	c.423G>T	c.(421-423)ccG>ccT	p.P141P	GRIK3_ENST00000373093.4_Silent_p.P141P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	141					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGTTGTCCAGCGGGTGGTGCT	0.612																																						ENST00000373091.3		NA																	0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(421-423)ccG>ccT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						288.0	246.0	260.0					1																	37346362		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346362C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.423G>T	1.37:g.37346362C>A		True	False		Somatic	0				GRIK3_ENST00000373093.4_Silent_p.P141P	p.P141P	NM_000831.3	NP_000822.2	WXS	Illumina HiSeq	Phase_I	Q13003	GRIK3_HUMAN			3	439	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	141					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.423G>T	CCDS416.1																																																																																				0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	0	NM_000831		1:37346362
BRWD3	254065	broad.mit.edu	37	X	79938009	79938009	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:79938009C>T	ENST00000373275.4	-	38	4568	c.4352G>A	c.(4351-4353)cGt>cAt	p.R1451H	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1451					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCTTCTTAGACGTTTTCTGTA	0.368																																						ENST00000373275.4		NA																	0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4351-4353)cGt>cAt		bromodomain and WD repeat domain containing 3							304.0	238.0	260.0					X																	79938009		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79938009C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4352G>A	X.37:g.79938009C>T	ENSP00000362372:p.Arg1451His	False	False		Somatic	0				BRWD3_ENST00000473691.1_5'UTR	p.R1451H	NM_153252.4	NP_694984	WXS	Illumina HiSeq	Phase_I	Q6RI45	BRWD3_HUMAN			38	4568	-			1451					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4352G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031405	0.93575	.	.	ENSG00000165288	ENST00000373275	T	0.57595	0.39	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	L	0.38175	1.15	0.51012	D	0.999905	D	0.76494	0.999	D	0.76071	0.987	T	0.61549	-0.7040	9	.	.	.	-11.5158	17.1252	0.86712	0.0:1.0:0.0:0.0	.	1451	Q6RI45	BRWD3_HUMAN	H	1451	ENSP00000362372:R1451H	.	R	-	2	0	BRWD3	79824665	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.904000	0.75708	2.223000	0.72356	0.415000	0.27848	CGT		0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	NM_153252		X:79938009
COL6A6	131873	broad.mit.edu	37	3	130287020	130287020	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:130287020G>A	ENST00000358511.6	+	5	2004	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	658	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R658L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGACCAGATCGGGTGCAAATT	0.413																																						ENST00000358511.6		NA																	1	Substitution - Missense(1)	p.R658L(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1972-1974)cGg>cAg		collagen, type VI, alpha 6							168.0	161.0	163.0					3																	130287020		1892	4110	6002	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287020G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1973G>A	3.37:g.130287020G>A	ENSP00000351310:p.Arg658Gln	True	False		Somatic	0				COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q	p.R658Q	NM_001102608.1	NP_001096078.1	WXS	Illumina HiSeq	Phase_I	A6NMZ7	CO6A6_HUMAN			5	2004	+			658			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1973G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.023	-0.201344	0.06219	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78246	-1.16;-1.16	5.53	3.16	0.36331	von Willebrand factor, type A (3);	0.395727	0.21379	N	0.075504	T	0.58736	0.2143	L	0.28014	0.82	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.35450	-0.9788	10	0.12103	T	0.63	.	6.1506	0.20310	0.4135:0.0:0.5865:0.0	.	658	A6NMZ7	CO6A6_HUMAN	Q	658	ENSP00000351310:R658Q;ENSP00000399236:R658Q	ENSP00000351310:R658Q	R	+	2	0	COL6A6	131769710	0.000000	0.05858	0.128000	0.21923	0.040000	0.13550	0.092000	0.15066	1.096000	0.41439	0.655000	0.94253	CGG		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	0	NM_001102608		3:130287020
CORT	1325	broad.mit.edu	37	1	10510135	10510135	+	5'UTR	SNP	A	A	C			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:10510135A>C	ENST00000377049.3	+	0	360				APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|CORT_ENST00000320498.4_Missense_Mutation_p.Y2S|APITD1-CORT_ENST00000400900.2_Intron	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		TTAGACATGTATAGACACAAA	0.512																																						ENST00000320498.4		NA																	0				breast(1)|endometrium(1)|stomach(1)	3						c.(4-6)tAt>tCt		cortistatin							128.0	139.0	135.0					1																	10510135		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1325							g.chr1:10510135A>C	AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.-146A>C	1.37:g.10510135A>C		False	False		Somatic	0				APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|CORT_ENST00000377049.3_5'UTR	p.Y2S			WXS	Illumina HiSeq	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)	1	165	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	NA					Q5T6G0|Q6UX11	Missense_Mutation	SNP	ENST00000377049.3	37	c.5A>C	CCDS117.2	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277818	0.59758	.	.	ENSG00000241563	ENST00000320498	.	.	.	5.32	-2.57	0.06248	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39623	-0.9605	5	0.87932	D	0	-4.2934	3.4673	0.07554	0.4045:0.0:0.315:0.2806	.	.	.	.	S	2	.	ENSP00000317110:Y2S	Y	+	2	0	CORT	10432722	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	0.076000	0.14712	-0.803000	0.04415	0.533000	0.62120	TAT		0.512	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	0	NM_001302		1:10510135
TMEM63A	9725	broad.mit.edu	37	1	226037743	226037743	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	647					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602																																						ENST00000366835.3		NA																	0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1939-1941)cgG>cgA		transmembrane protein 63A							132.0	118.0	122.0					1																	226037743		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226037743C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1941G>A	1.37:g.226037743C>T		False	False		Somatic	0					p.R647R	NM_014698.2	NP_055513.2	WXS	Illumina HiSeq	Phase_I	O94886	TM63A_HUMAN			21	2211	-	Breast(184;0.197)		647					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1941G>A	CCDS31042.1																																																																																				0.602	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	0	NM_014698		1:226037743
TMEM17	200728	broad.mit.edu	37	2	62728450	62728450	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:62728450T>G	ENST00000335390.5	-	4	702	c.491A>C	c.(490-492)aAa>aCa	p.K164T		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	164					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			ATTAACCATTTTCCTTAAGGT	0.428																																						ENST00000335390.5		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(490-492)aAa>aCa		transmembrane protein 17							138.0	135.0	136.0					2																	62728450		2203	4300	6503	SO:0001583	missense	200728					integral to membrane		g.chr2:62728450T>G		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.491A>C	2.37:g.62728450T>G	ENSP00000335094:p.Lys164Thr	True	False		Somatic	0					p.K164T	NM_198276.2	NP_938017.2	WXS	Illumina HiSeq	Phase_I	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		4	702	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		164					Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	37	c.491A>C	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	T	9.813	1.183817	0.21870	.	.	ENSG00000186889	ENST00000335390	T	0.46451	0.87	5.6	4.46	0.54185	.	0.339048	0.37577	N	0.002032	T	0.23532	0.0569	N	0.17082	0.46	0.31589	N	0.654104	B	0.10296	0.003	B	0.15052	0.012	T	0.22556	-1.0213	10	0.15066	T	0.55	-10.2028	8.2015	0.31428	0.0:0.1897:0.0:0.8103	.	164	Q86X19	TMM17_HUMAN	T	164	ENSP00000335094:K164T	ENSP00000335094:K164T	K	-	2	0	TMEM17	62581954	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.866000	0.39489	0.988000	0.38734	0.528000	0.53228	AAA		0.428	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	0	NM_198276		2:62728450
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_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_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_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
LBR	3930	broad.mit.edu	37	1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Tudor.				cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373																																						ENST00000338179.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(19-21)gCc>gTc		lamin B receptor							229.0	252.0	245.0					1																	225611758		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225611758G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.20C>T	1.37:g.225611758G>A	ENSP00000339883:p.Ala7Val	False	False		Somatic	0				LBR_ENST00000272163.4_Missense_Mutation_p.A7V	p.A7V	NM_194442.2	NP_919424.1	WXS	Illumina HiSeq	Phase_I	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	2	145	-	Breast(184;0.165)		7			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.20C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112372	0.56398	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080;ENST00000421383	D;D;T	0.97041	-4.22;-4.22;0.44	5.51	4.58	0.56647	Lamin-B receptor of TUDOR domain (1);Tudor domain (1);	0.361768	0.29145	N	0.013017	D	0.93138	0.7815	N	0.19112	0.55	0.33255	D	0.558951	B;B	0.24258	0.1;0.02	B;B	0.28916	0.096;0.017	D	0.92783	0.6242	10	0.35671	T	0.21	-12.0216	12.7545	0.57325	0.0778:0.0:0.9222:0.0	.	7;7	C9JXK0;Q14739	.;LBR_HUMAN	V	7	ENSP00000272163:A7V;ENSP00000339883:A7V;ENSP00000388059:A7V	ENSP00000272163:A7V	A	-	2	0	LBR	223678381	0.999000	0.42202	0.893000	0.35052	0.970000	0.65996	3.148000	0.50647	1.285000	0.44548	0.655000	0.94253	GCC		0.373	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	0	NM_002296		1:225611758
DIDO1	11083	broad.mit.edu	37	20	61511164	61511164	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2048					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGAGAGCGCGGAGGGCGGCC	0.721																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4		NA																	0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6142-6144)tcC>tcT		death inducer-obliterator 1							36.0	44.0	41.0					20																	61511164		2010	3928	5938	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511164G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6144C>T	20.37:g.61511164G>A		False	False		Somatic	0				DIDO1_ENST00000395343.1_Silent_p.S2048S	p.S2048S	NM_033081.2	NP_149072.2	WXS	Illumina HiSeq	Phase_I	Q9BTC0	DIDO1_HUMAN			16	6469	-	Breast(26;5.68e-08)		2048					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.6144C>T	CCDS33506.1																																																																																				0.721	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	NM_080796		20:61511164
HSPG2	3339	broad.mit.edu	37	1	22216609	22216609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216609C>A	ENST00000374695.3	-	6	518	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	147	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACATCCAGCTCCACAAAAACC	0.617																																						ENST00000374695.3		NA																	0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(439-441)Gag>Tag		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						139.0	124.0	129.0					1																	22216609		2203	4300	6503	SO:0001587	stop_gained	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216609C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.439G>T	1.37:g.22216609C>A	ENSP00000363827:p.Glu147*	False	False		Somatic	0					p.E147*	NM_005529.5	NP_005520.4	WXS	Illumina HiSeq	Phase_I	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	6	518	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	147			SEA.		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	c.439G>T	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.666493|4.666493	0.88251|0.88251	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	.|T	.|0.55413	.|0.52	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.40385|.	N|.	0.001116|.	.|T	.|0.73187	.|0.3555	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	.|T	.|0.75659	.|-0.3241	.|7	0.87932|0.66056	D|D	0|0.02	.|.	16.8112|16.8112	0.85720|0.85720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|69	.|Q5SZI5	.|.	X|C	147;113|69	.|ENSP00000405412:W69C	ENSP00000363827:E147X|ENSP00000405412:W69C	E|W	-|-	1|3	0|0	HSPG2|HSPG2	22089196|22089196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	6.844000|6.844000	0.75390|0.75390	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	0	NM_005529		1:22216609
DDR2	4921	broad.mit.edu	37	1	162729744	162729744	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:162729744G>A	ENST00000367922.3	+	9	1268	c.830G>A	c.(829-831)cGc>cAc	p.R277H	DDR2_ENST00000367921.3_Missense_Mutation_p.R277H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	277					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GAATTTGACCGCATCAGGAAT	0.498																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.3		NA																	0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(829-831)cGc>cAc		discoidin domain receptor tyrosine kinase 2							103.0	96.0	98.0					1																	162729744		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162729744G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.830G>A	1.37:g.162729744G>A	ENSP00000356899:p.Arg277His	False	False		Somatic	0				DDR2_ENST00000367921.3_Missense_Mutation_p.R277H	p.R277H	NM_001014796.1	NP_001014796.1	WXS	Illumina HiSeq	Phase_I	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		9	1268	+	all_hematologic(112;0.115)		NA					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.830G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970789	0.74246	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.56776	0.44;0.44	5.6	4.69	0.59074	.	0.048244	0.85682	D	0.000000	T	0.27832	0.0685	L	0.46670	1.46	0.39846	D	0.973175	B	0.34241	0.444	B	0.24701	0.055	T	0.24905	-1.0147	9	0.51188	T	0.08	.	13.4248	0.61020	0.0763:0.0:0.9237:0.0	.	277	Q16832	DDR2_HUMAN	H	277	ENSP00000356899:R277H;ENSP00000356898:R277H	ENSP00000356898:R277H	R	+	2	0	DDR2	160996368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.328000	0.96403	1.368000	0.46115	0.549000	0.68633	CGC		0.498	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	0	NM_006182		1:162729744
CASP5	838	broad.mit.edu	37	11	104871109	104871109	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:104871109C>T	ENST00000260315.3	-	6	830	c.831G>A	c.(829-831)gcG>gcA	p.A277A	CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000531367.1_Silent_p.A135A|CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000393141.2_Silent_p.A290A			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	277					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCTTTTTATGCGCAGTTCCGC	0.483																																						ENST00000393141.2		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(868-870)gcG>gcA		caspase 5, apoptosis-related cysteine peptidase							170.0	154.0	159.0					11																	104871109		2202	4299	6501	SO:0001819	synonymous_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104871109C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.831G>A	11.37:g.104871109C>T		False	False		Somatic	0				CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000260315.3_Silent_p.A277A|CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000531367.1_Silent_p.A135A	p.A290A	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	WXS	Illumina HiSeq	Phase_I	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	6	901	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	277					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	ENST00000260315.3	37	c.870G>A	CCDS8328.2																																																																																				0.483	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	0	NM_004347		11:104871109
DRD3	1814	broad.mit.edu	37	3	113850098	113850098	+	Silent	SNP	C	C	T	rs201118680	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:113850098C>T	ENST00000460779.1	-	7	1162	c.873G>A	c.(871-873)gcG>gcA	p.A291A	DRD3_ENST00000383673.2_Silent_p.A291A|DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000295881.7_Intron	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	291					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAGCTTGGGCGCTATGGTGG	0.542													c|||	2	0.000399361	0.0	0.0014	5008	,	,		18832	0.001		0.0	False		,,,				2504	0.0					ENST00000383673.2		NA																	0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(871-873)gcG>gcA		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	T	,	0,4406		0,0,2203	194.0	199.0	198.0		873,	-3.8	0.9	3		198	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	DRD3	NM_000796.3,NM_033663.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	291/401,	113850098	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850098C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.873G>A	3.37:g.113850098C>T		True	False		Somatic	0				DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Silent_p.A291A	p.A291A	NM_000796.3	NP_000787.2	WXS	Illumina HiSeq	Phase_I	P35462	DRD3_HUMAN			6	1303	-			291					A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.873G>A	CCDS2978.1																																																																																				0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	0	NM_000796.3		3:113850098
TIMM44	10469	broad.mit.edu	37	19	7998774	7998774	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:7998774C>T	ENST00000270538.3	-	6	926	c.658G>A	c.(658-660)Gag>Aag	p.E220K	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	220					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						ACTTTCTCCTCCTTGAACTTA	0.587																																						ENST00000270538.3		NA																	0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(658-660)Gag>Aag		translocase of inner mitochondrial membrane 44 homolog (yeast)							116.0	135.0	129.0					19																	7998774		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7998774C>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.658G>A	19.37:g.7998774C>T	ENSP00000270538:p.Glu220Lys	False	False		Somatic	0					p.E220K	NM_006351.3	NP_006342.2	WXS	Illumina HiSeq	Phase_I	O43615	TIM44_HUMAN			6	926	-			220					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.658G>A	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126410	0.37533	.	.	ENSG00000104980	ENST00000270538	T	0.77098	-1.07	5.22	2.99	0.34606	.	0.198544	0.53938	D	0.000059	T	0.62684	0.2448	L	0.33485	1.01	0.45979	D	0.998796	B	0.16396	0.017	B	0.13407	0.009	T	0.53365	-0.8449	10	0.15952	T	0.53	-30.6154	8.8822	0.35380	0.0:0.7654:0.1496:0.085	.	220	O43615	TIM44_HUMAN	K	220	ENSP00000270538:E220K	ENSP00000270538:E220K	E	-	1	0	TIMM44	7904774	0.545000	0.26449	0.962000	0.40283	0.719000	0.41307	1.125000	0.31332	1.206000	0.43276	0.561000	0.74099	GAG		0.587	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3	0			19:7998774
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|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	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	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.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	True	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	p.R80*	NM_000077.4	NP_000068.1	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	508	-		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)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21971120
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCCCAGGACGCGCCTGGGG	0.537																																						ENST00000523207.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(175-177)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							66.0	68.0	67.0					8																	73480145		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480145C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.176C>T	8.37:g.73480145C>T	ENSP00000430846:p.Thr59Met	False	False		Somatic	0					p.T59M	NM_004770.2	NP_004761.2	WXS	Illumina HiSeq	Phase_I	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	764	+	Breast(64;0.137)		59					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.176C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004318	0.93287	.	.	ENSG00000182674	ENST00000523207	D	0.82081	-1.57	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.93877	0.8041	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94789	0.7960	9	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	Q92953	KCNB2_HUMAN	M	59	ENSP00000430846:T59M	ENSP00000430846:T59M	T	+	2	0	KCNB2	73642699	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	ACG		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	0	NM_004770		8:73480145
CD1D	912	broad.mit.edu	37	1	158153826	158153826	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158153826G>A	ENST00000368171.3	+	6	1485		c.e6+1			NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule						antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512																																						ENST00000368171.3		NA																	1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.e6+1		CD1d molecule							340.0	309.0	320.0					1																	158153826		2203	4300	6503	SO:0001630	splice_region_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158153826G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.986+1G>A	1.37:g.158153826G>A		False	False		Somatic	0						NM_001766.3	NP_001757.1	WXS	Illumina HiSeq	Phase_I	P15813	CD1D_HUMAN			6	1485	+	all_hematologic(112;0.0378)		NA					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Splice_Site	SNP	ENST00000368171.3	37		CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447165	0.25987	.	.	ENSG00000158473	ENST00000368171	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6401	0.51228	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD1D	156420450	0.982000	0.34865	0.257000	0.24404	0.009000	0.06853	2.797000	0.47877	2.450000	0.82876	0.650000	0.86243	.		0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	0	NM_001766	Intron	1:158153826
NTSR1	4923	broad.mit.edu	37	20	61341006	61341006	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61341006C>T	ENST00000370501.3	+	1	818	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	149					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCCTGCGCGACGCCTGCACCT	0.662																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(445-447)gaC>gaT		neurotensin receptor 1 (high affinity)							53.0	51.0	52.0					20																	61341006		2202	4299	6501	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61341006C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.447C>T	20.37:g.61341006C>T		False	False		Somatic	0					p.D149D	NM_002531.2	NP_002522.2	WXS	Illumina HiSeq	Phase_I	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	818	+	Breast(26;3.65e-08)		149					Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.447C>T	CCDS13502.1																																																																																				0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1	0			20:61341006
RYR2	6262	broad.mit.edu	37	1	237550598	237550598	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:237550598C>T	ENST00000366574.2	+	9	911	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RYR2_ENST00000360064.6_Silent_p.N196N|RYR2_ENST00000542537.1_Silent_p.N182N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	198	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTATGGCAACGGCAGCTTAC	0.498																																						ENST00000366574.2		NA																	0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(592-594)aaC>aaT		ryanodine receptor 2 (cardiac)							113.0	114.0	114.0					1																	237550598		2003	4178	6181	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237550598C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.594C>T	1.37:g.237550598C>T		False	False		Somatic	0				RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	p.N198N	NM_001035.2	NP_001026.2	WXS	Illumina HiSeq	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		9	911	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	198			MIR 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.594C>T	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	NM_001035		1:237550598
TRDN	10345	broad.mit.edu	37	6	123869741	123869741	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:123869741C>A	ENST00000398178.3	-	3	270	c.249G>T	c.(247-249)aaG>aaT	p.K83N	TRDN_ENST00000334268.4_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N|TRDN_ENST00000542443.1_Missense_Mutation_p.K83N	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	83					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTGAGCCAATCTTGGCAATAG	0.333																																						ENST00000334268.4		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(247-249)aaG>aaT		triadin							42.0	40.0	41.0					6																	123869741		1824	4075	5899	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123869741C>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.249G>T	6.37:g.123869741C>A	ENSP00000381240:p.Lys83Asn	False	False		Somatic	0				TRDN_ENST00000542443.1_Missense_Mutation_p.K83N|TRDN_ENST00000398178.3_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N	p.K83N			WXS	Illumina HiSeq	Phase_I	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	3	566	-			83					A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.249G>T	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855645	0.51376	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.68331	1.24;1.24;1.24;-0.32	5.29	4.42	0.53409	Aspartyl beta-hydroxylase/Triadin domain (1);	0.207799	0.41294	D	0.000910	T	0.76076	0.3937	M	0.83012	2.62	0.32517	N	0.536805	D;D;D;D;D	0.89917	1.0;1.0;0.993;0.993;0.993	D;D;D;D;D	0.83275	0.996;0.996;0.911;0.911;0.934	T	0.79431	-0.1806	10	0.72032	D	0.01	-3.8587	12.1537	0.54064	0.0:0.9204:0.0:0.0796	.	83;83;83;83;83	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	N	83	ENSP00000381240:K83N;ENSP00000333984:K83N;ENSP00000439281:K83N;ENSP00000437684:K83N	ENSP00000333984:K83N	K	-	3	2	TRDN	123911440	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.278000	0.43426	1.216000	0.43427	0.655000	0.94253	AAG		0.333	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0			6:123869741
PGBD2	267002	broad.mit.edu	37	1	249212345	249212345	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:249212345C>T	ENST00000329291.5	+	3	1709	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V|PGBD2_ENST00000355360.4_Missense_Mutation_p.A270V	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	521										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGATACATTGCCTGTGTGTAT	0.532																																						ENST00000355360.4		NA																	0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(808-810)gCc>gTc		piggyBac transposable element derived 2							112.0	97.0	102.0					1																	249212345		2203	4300	6503	SO:0001583	missense	0							g.chr1:249212345C>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1562C>T	1.37:g.249212345C>T	ENSP00000331643:p.Ala521Val	False	False		Somatic	0				PGBD2_ENST00000329291.5_Missense_Mutation_p.A521V|PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V	p.A270V	NM_001017434.1	NP_001017434.1	WXS	Illumina HiSeq	Phase_I	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1079	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	521					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.809C>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	10.26	1.299979	0.23650	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.14893	2.47;2.67;2.67	3.05	3.05	0.35203	.	0.122356	0.33650	N	0.004692	T	0.15392	0.0371	N	0.04018	-0.295	0.30874	N	0.73219	P;D	0.76494	0.778;0.999	B;D	0.80764	0.262;0.994	T	0.06092	-1.0846	10	0.14656	T	0.56	.	9.8324	0.40950	0.0:1.0:0.0:0.0	.	518;521	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	V	270;521;518	ENSP00000355424:A270V;ENSP00000331643:A521V;ENSP00000439950:A518V	ENSP00000331643:A521V	A	+	2	0	PGBD2	247178968	0.994000	0.37717	0.937000	0.37676	0.055000	0.15305	1.573000	0.36472	1.999000	0.58509	0.467000	0.42956	GCC		0.532	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1	0			1:249212345
LRP3	4037	broad.mit.edu	37	19	33696978	33696978	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:33696978C>T	ENST00000253193.7	+	5	1504	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	434	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACACGCCTGCCGACCGCTGCA	0.667																																						ENST00000253193.7		NA																	0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1300-1302)gcC>gcT		low density lipoprotein receptor-related protein 3							19.0	19.0	19.0					19																	33696978		2200	4296	6496	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696978C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1302C>T	19.37:g.33696978C>T		False	False		Somatic	0					p.A434A	NM_002333.3	NP_002324.2	WXS	Illumina HiSeq	Phase_I	O75074	LRP3_HUMAN			5	1504	+	Esophageal squamous(110;0.137)		434			LDL-receptor class A 3.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.1302C>T	CCDS12430.1																																																																																				0.667	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4	0			19:33696978
TBC1D2B	23102	broad.mit.edu	37	15	78305282	78305282	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:78305282A>T	ENST00000300584.3	-	9	2152	c.2153T>A	c.(2152-2154)cTg>cAg	p.L718Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L718Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	718	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTTGGGCAGAGTTCGCAG	0.547																																						ENST00000409931.3		NA																	0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2152-2154)cTg>cAg		TBC1 domain family, member 2B							149.0	112.0	124.0					15																	78305282		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78305282A>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2153T>A	15.37:g.78305282A>T	ENSP00000300584:p.Leu718Gln	False	False		Somatic	0				TBC1D2B_ENST00000300584.3_Missense_Mutation_p.L718Q	p.L718Q			WXS	Illumina HiSeq	Phase_I	Q9UPU7	TBD2B_HUMAN			9	2224	-			718			Rab-GAP TBC.		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2153T>A	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.590106|4.590106	0.86851|0.86851	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584	.|T;T	.|0.12879	.|2.64;2.64	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Rab-GAP/TBC domain (4);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.48642|0.48642	0.1511|0.1511	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.996;1.0	T|T	0.62459|0.62459	-0.6850|-0.6850	5|10	.|0.87932	.|D	.|0	.|.	15.0304|15.0304	0.71701|0.71701	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|718;170;718	.|Q9UPU7-2;Q9UPU7-3;Q9UPU7	.|.;.;TBD2B_HUMAN	S|Q	600|718	.|ENSP00000387165:L718Q;ENSP00000300584:L718Q	.|ENSP00000300584:L718Q	C|L	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76092337|76092337	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.987000|0.987000	0.75469|0.75469	9.109000|9.109000	0.94291|0.94291	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	0	NM_015079		15:78305282
