#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
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
ARCN1	372	broad.mit.edu	37	11	118451977	118452014	+	Frame_Shift_Del	DEL	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	-	rs142869705		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	-	-	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:118451977_118452014delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	ENST00000264028.4	+	2	115_152	c.20_57delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	c.(19-57)gcggtctgcacaaaagcaggaaaggctattgtttctcgafs	p.AVCTKAGKAIVSR7fs	ARCN1_ENST00000359415.4_Frame_Shift_Del_p.AVCTKAGKAIVSR48fs|ARCN1_ENST00000534182.2_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs|ARCN1_ENST00000392859.3_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	7					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A15T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTGGCAGCAGCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGACAGTTTGTGG	0.42																																						ENST00000359415.4		NA																	1	Substitution - Missense(1)	p.A15T(1)	urinary_tract(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(142-180)gcggtctgcacaaaagcaggaaaggctattgtttctcgafs		archain 1																																				SO:0001589	frameshift_variant	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118451977_118452014delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.20_57delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	11.37:g.118451977_118452014delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	ENSP00000264028:p.Ala7fs	True	False		Somatic	1				ARCN1_ENST00000392859.3_Intron|ARCN1_ENST00000264028.4_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs|ARCN1_ENST00000534182.2_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs	p.AVCTKAGKAIVSR48fs			WXS	Illumina HiSeq	Phase_I	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	3	308_345	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	7					B4E1X2|E9PEU4|Q52M80	Frame_Shift_Del	DEL	ENST00000264028.4	37	c.143_180delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CCDS8400.1																																																																																				0.420	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1	0			11:118451977
DCP1B	196513	broad.mit.edu	37	12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG	rs570843986	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:2062350_2062351insTGG	ENST00000280665.6	-	7	834_835	c.755_756insCCA	c.(754-756)cag>caCCAg	p.251_252insH	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_In_Frame_Ins_p.125_126insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251	Poly-Gln.			H -> HQ (in Ref. 1; AAN62764, 2; BAB71118 and 4; AAH15368/AAH43437). {ECO:0000305}.	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55																																						ENST00000540622.1		NA																	8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(376-378)cag>caCCAg		decapping mRNA 1B																																				SO:0001652	inframe_insertion	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350_2062351insTGG	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.753_755dupCCA	12.37:g.2062354_2062356dupTGG	ENSP00000280665:p.His251_His251dup	True	False		Somatic	2				DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000541700.1_5'UTR	p.125_126insH			WXS	Illumina HiSeq	Phase_I	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		4	435_436	-			251					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	In_Frame_Ins	INS	ENST00000280665.6	37	c.377_378insCCA	CCDS31727.1																																																																																				0.550	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	0	NM_152640		12:2062350
SKA3	221150	broad.mit.edu	37	13	21734128	21734133	+	Splice_Site	DEL	TAAAAG	TAAAAG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TAAAAG	TAAAAG	-	-	TAAAAG	TAAAAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	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
FLG	2312	broad.mit.edu	37	1	152276974	152276985	+	In_Frame_Del	DEL	TGGGACCCTGAG	TGGGACCCTGAG	-	rs140294281|rs145466389	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TGGGACCCTGAG	TGGGACCCTGAG	-	-	TGGGACCCTGAG	TGGGACCCTGAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152276974_152276985delTGGGACCCTGAG	ENST00000368799.1	-	3	10412_10423	c.10377_10388delCTCAGGGTCCCA	c.(10375-10389)cactcagggtcccat>cat	p.3459_3463HSGSH>H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3459	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G3461W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCTGTGATGGGACCCTGAGTGTCCAGACC	0.571									Ichthyosis																													ENST00000368799.1		NA																	1	Substitution - Missense(1)	p.G3461W(1)	lung(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10375-10389)cactcagggtcccat>cat		filaggrin																																				SO:0001651	inframe_deletion	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276974_152276985delTGGGACCCTGAG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10377_10388delCTCAGGGTCCCA	1.37:g.152276974_152276985delTGGGACCCTGAG	ENSP00000357789:p.His3459_Ser3462del	True	False		Somatic	1				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.3459_3463HSGSH>H	NM_002016.1	NP_002007.1	WXS	Illumina HiSeq	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10412_10423	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3459			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Del	DEL	ENST00000368799.1	37	c.10377_10388delCTCAGGGTCCCA	CCDS30860.1																																																																																				0.571	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	NM_002016		1:152276974
TBL3	10607	broad.mit.edu	37	16	2028197	2028202	+	In_Frame_Del	DEL	CTCCGA	CTCCGA	-	rs372864475		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CTCCGA	CTCCGA	-	-	CTCCGA	CTCCGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2028197_2028202delCTCCGA	ENST00000568546.1	+	20	2238_2243	c.2110_2115delCTCCGA	c.(2110-2115)ctccgadel	p.LR706del		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	706					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGCCACCATGCTCCGACTGCGGCGCG	0.655																																					Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1		NA																	0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(2110-2115)ctccgadel		transducin (beta)-like 3																																				SO:0001651	inframe_deletion	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2028197_2028202delCTCCGA	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.2110_2115delCTCCGA	16.37:g.2028197_2028202delCTCCGA	ENSP00000454836:p.Leu706_Arg707del	False	False		Somatic	1					p.LR706del	NM_006453.2	NP_006444.2	WXS	Illumina HiSeq	Phase_I	Q12788	TBL3_HUMAN			20	2238_2243	+			706					Q59GD6|Q8IVB7|Q96A78	In_Frame_Del	DEL	ENST00000568546.1	37	c.2110_2115delCTCCGA	CCDS10453.1																																																																																				0.655	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	0	NM_006453		16:2028197
E4F1	1877	broad.mit.edu	37	16	2284179	2284196	+	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-	rs137969975|rs552965184|rs113270919	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-	-	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	ENST00000301727.4	+	10	1431_1448	c.1383_1400delGCCGTTCGCCTGCGCGCA	c.(1381-1401)aggccgttcgcctgcgcgcag>agg	p.PFACAQ462del	DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000382437.4_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000565090.1_Intron|DNASE1L2_ENST00000564065.1_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	462	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CAGGGCCGAGGCCGTTCGCCTGCGCGCAGTGTGGCAAG	0.693																																						ENST00000301727.4		NA																	0				ovary(1)	1						c.(1381-1401)aggccgttcgcctgcgcgcag>agg		E4F transcription factor 1																																				SO:0001651	inframe_deletion	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1383_1400delGCCGTTCGCCTGCGCGCA	16.37:g.2284179_2284196delGCCGTTCGCCTGCGCGCA	ENSP00000301727:p.Pro462_Gln467del	False	False		Somatic	1				E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del	p.PFACAQ462del	NM_004424.3	NP_004415.2	WXS	Illumina HiSeq	Phase_I	Q66K89	E4F1_HUMAN			10	1431_1448	+			462			Interaction with BMI1.|Mediates interaction with CDKN2A.		A8K2R4|O00146	In_Frame_Del	DEL	ENST00000301727.4	37	c.1383_1400delGCCGTTCGCCTGCGCGCA	CCDS32370.1																																																																																				0.693	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	0	NM_004424		16:2284179
SNX29	92017	broad.mit.edu	37	16	12450122	12450123	+	In_Frame_Ins	INS	-	-	TTAGCAGGGTGTGGTGGC	rs578191597		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:12450122_12450123insTTAGCAGGGTGTGGTGGC	ENST00000566228.1	+	16	1954_1955	c.1885_1886insTTAGCAGGGTGTGGTGGC	c.(1885-1887)gat>gTTAGCAGGGTGTGGTGGCat	p.629_629D>VSRVWWH	SNX29_ENST00000306030.3_In_Frame_Ins_p.244_244D>VSRVWWH|SNX29_ENST00000323433.4_In_Frame_Ins_p.244_244D>VSRVWWH	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	629						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GGAGCTCATCGATCTCCGGGGA	0.589																																						ENST00000566228.1		NA																	0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1885-1887)gat>gTTAGCAGGGTGTGGTGGCat		sorting nexin 29																																				SO:0001652	inframe_insertion	92017				cell communication		phosphatidylinositol binding	g.chr16:12450122_12450123insTTAGCAGGGTGTGGTGGC	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		Exception_encountered	16.37:g.12450122_12450123insTTAGCAGGGTGTGGTGGC	ENSP00000456480:p.Asp629delinsValSerArgValTrpTrpHis	False	False		Somatic	0				SNX29_ENST00000323433.4_In_Frame_Ins_p.244_244D>VSRVWWH|SNX29_ENST00000306030.3_In_Frame_Ins_p.244_244D>VSRVWWH	p.629_629D>VSRVWWH	NM_032167.3	NP_115543.3	WXS	Illumina HiSeq	Phase_I	Q8TEQ0	SNX29_HUMAN			16	1954_1955	+			244					B5MDW2|Q8N2X2|Q9HA26	In_Frame_Ins	INS	ENST00000566228.1	37	c.1885_1886insTTAGCAGGGTGTGGTGGC	CCDS10553.2																																																																																				0.589	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1	0			16:12450122
CCDC9	26093	broad.mit.edu	37	19	47774666	47774668	+	In_Frame_Del	DEL	GAG	GAG	-	rs138370983|rs79550409|rs373093080	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:47774666_47774668delGAG	ENST00000221922.6	+	12	1549_1551	c.1327_1329delGAG	c.(1327-1329)gagdel	p.E445del		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	445	Glu-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		agaaggtgatgaggaggaACCAG	0.606														552	0.110224	0.034	0.1844	5008	,	,		16057	0.0903		0.0895	False		,,,				2504	0.2025					ENST00000221922.6		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(1327-1329)gagdel		coiled-coil domain containing 9				208,4056		4,200,1928						-8.6	0.0		dbSNP_134	113	947,7301		59,829,3236	no	coding	CCDC9	NM_015603.2		63,1029,5164	A1A1,A1R,RR		11.4816,4.878,9.2311				1155,11357				SO:0001651	inframe_deletion	26093							g.chr19:47774666_47774668delGAG	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1327_1329delGAG	19.37:g.47774669_47774671delGAG	ENSP00000221922:p.Glu445del	False	False		Somatic	2					p.E445del	NM_015603.2	NP_056418.1	WXS	Illumina HiSeq	Phase_I	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1549_1551	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	445			Glu-rich.			In_Frame_Del	DEL	ENST00000221922.6	37	c.1327_1329delGAG	CCDS12698.1																																																																																				0.606	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	0	NM_015603		19:47774666
KCNA7	3743	broad.mit.edu	37	19	49573363	49573365	+	In_Frame_Del	DEL	GGA	GGA	-	rs10535426|rs12975537|rs375428032	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:49573363_49573365delGGA	ENST00000221444.1	-	2	1681_1683	c.1326_1328delTCC	c.(1324-1329)cctcca>cca	p.442_443PP>P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	442					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	TGCCCAGAGTGGAGGTGGTAGCT	0.631														725	0.144768	0.2988	0.1398	5008	,	,		15138	0.0486		0.0875	False		,,,				2504	0.0982				Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1324-1329)cctcca>cca		potassium voltage-gated channel, shaker-related subfamily, member 7				1096,3166		123,850,1158						-0.9	0.9		dbSNP_107	73	770,7484		38,694,3395	no	coding	KCNA7	NM_031886.2		161,1544,4553	A1A1,A1R,RR		9.3288,25.7156,14.9089				1866,10650				SO:0001651	inframe_deletion	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573363_49573365delGGA	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1326_1328delTCC	19.37:g.49573363_49573365delGGA	ENSP00000221444:p.Pro443del	False	False		Somatic	1					p.442_443PP>P	NM_031886.2	NP_114092.2	WXS	Illumina HiSeq	Phase_I	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1681_1683	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	442					A1KYX7|Q9BYS4	In_Frame_Del	DEL	ENST00000221444.1	37	c.1326_1328delTCC	CCDS12755.1																																																																																				0.631	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	0	NM_031886		19:49573363
RASSF2	9770	broad.mit.edu	37	20	4770321	4770339	+	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-	rs188515817|rs375756047|rs372791134		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-	-	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	ENST00000379400.3	-	8	737_755	c.542_560delCCGTGTTCACACCAGCCTA	c.(541-561)tccgtgttcacaccagcctatfs	p.SVFTPAY181fs	RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	181	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GACAGAGCCATAGGCTGGTGTGAACACGGATGTCTGTCA	0.539																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3		NA																	0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(541-561)tccgtgttcacaccagcctatfs		Ras association (RalGDS/AF-6) domain family member 2																																				SO:0001589	frameshift_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.542_560delCCGTGTTCACACCAGCCTA	20.37:g.4770321_4770339delTAGGCTGGTGTGAACACGG	ENSP00000368710:p.Ser181fs	False	False		Somatic	1				RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	p.SVFTPAY181fs	NM_014737.2	NP_055552.1	WXS	Illumina HiSeq	Phase_I	P50749	RASF2_HUMAN			8	737_755	-			181			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Frame_Shift_Del	DEL	ENST00000379400.3	37	c.542_560delCCGTGTTCACACCAGCCTA	CCDS13083.1																																																																																				0.539	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	0	NM_014737		20:4770321
RFPL1	5988	broad.mit.edu	37	22	29837567	29837569	+	In_Frame_Del	DEL	TCC	TCC	-	rs397745673|rs79401928|rs71324764|rs3842466	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:29837567_29837569delTCC	ENST00000354373.2	+	2	619_621	c.410_412delTCC	c.(409-414)ttcctc>ttc	p.L139del	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	139	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Missing (in RFPL1S).				zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GCCAACAACTTCCTCCTCATTTC	0.502														1336	0.266773	0.149	0.4193	5008	,	,		21601	0.1131		0.4503	False		,,,				2504	0.2873					ENST00000354373.2		NA																	0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(409-414)ttcctc>ttc		ret finger protein-like 1				779,3485		64,651,1417						-2.2	0.0		dbSNP_130	107	3633,4621		805,2023,1299	no	coding	RFPL1	NM_021026.2		869,2674,2716	A1A1,A1R,RR		44.015,18.2692,35.2452				4412,8106				SO:0001651	inframe_deletion	5988						zinc ion binding	g.chr22:29837567_29837569delTCC	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.410_412delTCC	22.37:g.29837570_29837572delTCC	ENSP00000346342:p.Leu139del	False	False		Somatic	2				RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	p.L139del	NM_021026.2	NP_066306.2	WXS	Illumina HiSeq	Phase_I	O75677	RFPL1_HUMAN			2	619_621	+			139		Missing (in RFPL1S).	B30.2/SPRY.		Q6IC06|Q9UJ97	In_Frame_Del	DEL	ENST00000354373.2	37	c.410_412delTCC	CCDS13857.2																																																																																				0.502	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	0	NM_021026		22:29837567
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(61-66)gcggca>gca		insulin receptor substrate 4																																				SO:0001651	inframe_deletion	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979510_107979512delGCC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.63_65delGGC	X.37:g.107979513_107979515delGCC	ENSP00000361202:p.Ala25del	True	False		Somatic	2					p.21_22AA>A	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	139_141	-			21			Poly-Ala.			In_Frame_Del	DEL	ENST00000372129.2	37	c.63_65delGGC	CCDS14544.1																																																																																				0.616	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107979510
DOCK11	139818	broad.mit.edu	37	X	117742086	117742096	+	Frame_Shift_Del	DEL	TCTAAGATCAT	TCTAAGATCAT	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TCTAAGATCAT	TCTAAGATCAT	-	-	TCTAAGATCAT	TCTAAGATCAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:117742086_117742096delTCTAAGATCAT	ENST00000276202.7	+	25	2796_2806	c.2733_2743delTCTAAGATCAT	c.(2731-2745)tatctaagatcattcfs	p.LRSF912fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.LRSF912fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	912					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGATAGTTATCTAAGATCATTCATAAAGGT	0.313																																						ENST00000276204.6		NA																	0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(2731-2745)tatctaagatcattcfs		dedicator of cytokinesis 11																																				SO:0001589	frameshift_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117742086_117742096delTCTAAGATCAT	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2733_2743delTCTAAGATCAT	X.37:g.117742086_117742096delTCTAAGATCAT	ENSP00000276202:p.Leu912fs	False	False		Somatic	1				DOCK11_ENST00000276202.7_Frame_Shift_Del_p.LRSF912fs	p.LRSF912fs			WXS	Illumina HiSeq	Phase_I	Q5JSL3	DOC11_HUMAN			25	2807_2817	+			912					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	ENST00000276202.7	37	c.2733_2743delTCTAAGATCAT	CCDS35373.1																																																																																				0.313	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	0	NM_144658		X:117742086
SCN9A	6335	broad.mit.edu	37	2	167055876	167055877	+	In_Frame_Ins	INS	-	-	GAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:167055876_167055877insGAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG	ENST00000409435.1	-	26	5271_5272	c.5272_5273insCTCTGCCGAAGAGGATGACCATCTCCAACAGAAGAATTC	c.(5272-5274)gtc>gCTCTGCCGAAGAGGATGACCATCTCCAACAGAAGAATTCtc	p.1758_1758V>ALPKRMTISNRRIL	SCN9A_ENST00000409672.1_In_Frame_Ins_p.1747_1747V>ALPKRMTISNRRIL|SCN9A_ENST00000375387.4_In_Frame_Ins_p.1759_1759V>ALPKRMTISNRRIL|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_In_Frame_Ins_p.1759_1759V>ALPKRMTISNRRIL			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1758					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)	CTCCAGTATGACTGCAATGTAC	0.401																																						ENST00000409672.1		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.(5239-5241)gtc>gCTCTGCCGAAGAGGATGACCATCTCCAACAGAAGAATTCtc		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)																																			SO:0001652	inframe_insertion	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055876_167055877insGAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG	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.5272_5273insCTCTGCCGAAGAGGATGACCATCTCCAACAGAAGAATTC	2.37:g.167055876_167055877insGAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG	ENSP00000386330:p.Val1758delinsAlaLeuProLysArgMetThrIleSerAsnArgArgIleLeu	False	False		Somatic	0				SCN9A_ENST00000303354.6_In_Frame_Ins_p.1759_1759V>ALPKRMTISNRRIL|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_In_Frame_Ins_p.1758_1758V>ALPKRMTISNRRIL|SCN9A_ENST00000375387.4_In_Frame_Ins_p.1759_1759V>ALPKRMTISNRRIL	p.1747_1747V>ALPKRMTISNRRIL	NM_002977.3	NP_002968.1	WXS	Illumina HiSeq	Phase_I	Q15858	SCN9A_HUMAN			27	5585_5586	-			1758					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	In_Frame_Ins	INS	ENST00000409435.1	37	c.5239_5240insCTCTGCCGAAGAGGATGACCATCTCCAACAGAAGAATTC	CCDS46441.1																																																																																				0.401	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	0	NM_002977		2:167055876
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
CD86	942	broad.mit.edu	37	3	121822373	121822417	+	In_Frame_Del	DEL	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	-	rs112508906|rs539519506	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	-	-	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:121822373_121822417delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	ENST00000330540.2	+	3	195_239	c.79_123delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	c.(79-123)aagattcaagcttatttcaatgagactgcagacctgccatgccaadel	p.KIQAYFNETADLPCQ27del	CD86_ENST00000393627.2_In_Frame_Del_p.KIQAYFNETADLPCQ21del|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	27				K -> E (in Ref. 9; AAA86473). {ECO:0000305}.	aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)	p.E34D(1)|p.I28T(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGCTCCTCTGAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAATTTGCAAACT	0.408																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2		NA																	2	Substitution - Missense(2)	p.E34D(1)|p.I28T(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(79-123)aagattcaagcttatttcaatgagactgcagacctgccatgccaadel		CD86 molecule	Abatacept(DB01281)																																			SO:0001651	inframe_deletion	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822373_121822417delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.79_123delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	3.37:g.121822373_121822417delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	ENSP00000332049:p.Lys27_Gln41del	False	False		Somatic	1				CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_In_Frame_Del_p.KIQAYFNETADLPCQ21del|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000264468.5_Intron	p.KIQAYFNETADLPCQ27del	NM_175862.4	NP_787058.4	WXS	Illumina HiSeq	Phase_I	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	195_239	+			27	K -> E (in Ref. 8; AAA86473).				A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	In_Frame_Del	DEL	ENST00000330540.2	37	c.79_123delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	CCDS3009.1																																																																																				0.408	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	0	NM_006889		3:121822373
ATR	545	broad.mit.edu	37	3	142242967	142243004	+	Frame_Shift_Del	DEL	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-	rs56026468	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-	-	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	ENST00000350721.4	-	22	4104_4141	c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	c.(3982-4020)gtagaacctattatctcacagttggtgacagtgcttttgfs	p.VEPIISQLVTVLL1328fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.VEPIISQLVTVLL1264fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1328					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGCAACCTTTCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTACTGTTTCACT	0.382								Other conserved DNA damage response genes																														ENST00000350721.4		NA																	0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(3982-4020)gtagaacctattatctcacagttggtgacagtgcttttgfs	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related																																				SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	3.37:g.142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	ENSP00000343741:p.Val1328fs	False	False		Somatic	1				ATR_ENST00000383101.3_Frame_Shift_Del_p.VEPIISQLVTVLL1264fs	p.VEPIISQLVTVLL1328fs	NM_001184.3	NP_001175.2	WXS	Illumina HiSeq	Phase_I	Q13535	ATR_HUMAN			22	4104_4141	-			1328					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	CCDS3124.1																																																																																				0.382	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	0	NM_001184		3:142242967
PDZD2	23037	broad.mit.edu	37	5	32089602	32089631	+	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-	-	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENST00000438447.1	+	20	6436_6465	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	c.(6046-6078)acccctaaatctcctaagtgtagagcagagggc>acc	p.PKSPKCRAEG2017del	PDZD2_ENST00000282493.3_In_Frame_Del_p.PKSPKCRAEG2017del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2017					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.C2022Y(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCAACCACCCCTAAATCTCCTAAGTGTAGAGCAGAGGGCAGGGCGCCC	0.635																																						ENST00000438447.1		NA																	1	Substitution - Missense(1)	p.C2022Y(1)	ovary(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6046-6078)acccctaaatctcctaagtgtagagcagagggc>acc		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	5.37:g.32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENSP00000402033:p.Pro2017_Gly2026del	False	False		Somatic	1				PDZD2_ENST00000282493.3_In_Frame_Del_p.PKSPKCRAEG2017del	p.PKSPKCRAEG2017del			WXS	Illumina HiSeq	Phase_I	O15018	PDZD2_HUMAN			20	6436_6465	+			2017					Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCDS34137.1																																																																																				0.635	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1	0			5:32089602
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
GPR6	2830	broad.mit.edu	37	6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	rs375711945|rs573522362		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712																																						ENST00000275169.3		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel		G protein-coupled receptor 6																																				SO:0001651	inframe_deletion	0					integral to plasma membrane		g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	6.37:g.110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENSP00000275169:p.Ala21_Ala40del	True	False		Somatic	1				GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	p.AAAAATAAGGPDTGEWGPPA21del	NM_005284.3	NP_005275.1	WXS	Illumina HiSeq	Phase_I	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	1	79_138	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	21			Poly-Ala.		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	In_Frame_Del	DEL	ENST00000275169.3	37	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	CCDS5079.1																																																																																				0.712	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1	0			6:110300376
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs71815788|rs55736770	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)caadel	p.Q95del	TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567																																						ENST00000392092.2		NA																	3	Deletion - In frame(3)	p.Q72del(3)	ovary(1)|prostate(1)|breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(214-216)caadel		TATA box binding protein																																				SO:0001651	inframe_deletion	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871038_170871040delCAA	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.214_216delCAA	6.37:g.170871038_170871040delCAA	ENSP00000375942:p.Gln95del	True	False		Somatic	1				TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	p.Q95del	NM_003194.4	NP_003185.1	WXS	Illumina HiSeq	Phase_I	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	493_495	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	95		Missing.	Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	c.214_216delCAA	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	0	NM_003194		6:170871038
KCNH2	3757	broad.mit.edu	37	7	150645966	150645967	+	Frame_Shift_Ins	INS	-	-	CCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:150645966_150645967insCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC	ENST00000262186.5	-	10	2970_2971	c.2569_2570insGCTGGACATGTACCCTGAGTTCTCCGACCACTTCTGGTCCAGCCTGG	c.(2569-2571)gagfs	p.E857fs	KCNH2_ENST00000392968.2_Frame_Shift_Ins_p.E761fs|KCNH2_ENST00000330883.4_Frame_Shift_Ins_p.E517fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	857					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GAAGGTGATCTCCAGGCTGGAC	0.579																																					GBM(137;110 1844 13671 20123 45161)	ENST00000262186.5		NA																	0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2569-2571)gagfs		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150645966_150645967insCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2523_2569dupGCTGGACATGTACCCTGAGTTCTCCGACCACTTCTGGTCCAGCCTGG	7.37:g.150645966_150645967insCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC	ENSP00000262186:p.Glu857fs	False	False		Somatic	0				KCNH2_ENST00000330883.4_Frame_Shift_Ins_p.E517fs|KCNH2_ENST00000392968.2_Frame_Shift_Ins_p.E761fs	p.E857fs	NM_000238.3	NP_000229.1	WXS	Illumina HiSeq	Phase_I	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	2970_2971	-	all_neural(206;0.219)		857					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Ins	INS	ENST00000262186.5	37	c.2569_2570insGCTGGACATGTACCCTGAGTTCTCCGACCACTTCTGGTCCAGCCTGG	CCDS5910.1																																																																																				0.579	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	0	NM_000238		7:150645966
KMT2C	58508	broad.mit.edu	37	7	151845337	151845338	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:151845337_151845338insA	ENST00000262189.6	-	52	13892_13893	c.13674_13675insT	c.(13672-13677)attggtfs	p.G4559fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G4616fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4559	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGCAGCTGACCAATTGTGTGGA	0.535																																						ENST00000262189.6		NA																	0					NA						c.(13672-13677)attggtfs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151845337_151845338insA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13675dupT	7.37:g.151845339_151845339dupA	ENSP00000262189:p.Gly4559fs	False	False		Somatic	2				KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G4616fs	p.G4559fs	NM_170606.2	NP_733751.2	WXS	Illumina HiSeq	Phase_I					52	13892_13893	-			NA					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.13674_13675insT	CCDS5931.1																																																																																				0.535	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3	0			7:151845337
RP1L1	94137	broad.mit.edu	37	8	10466004	10466024	+	In_Frame_Del	DEL	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC	-	rs199577777|rs199959237|rs535482422|rs558932296|rs181718385|rs542254783	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC	-	-	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:10466004_10466024delCTGGGCCTCCCCTTCAGCCTC	ENST00000382483.3	-	4	5807_5827	c.5584_5604delGAGGCTGAAGGGGAGGCCCAG	c.(5584-5604)gaggctgaaggggaggcccagdel	p.EAEGEAQ1862del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1942					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1862E(1)|p.A1863D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCCCCTTCAGCCTCCTGGGCATCC	0.633																																						ENST00000382483.3		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E1862E(1)|p.A1863D(1)	lung(2)	breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(5584-5604)gaggctgaaggggaggcccagdel		retinitis pigmentosa 1-like 1				85,3535		3,79,1728						0.5	0.0			170	854,7024		39,776,3124	no	coding	RP1L1	NM_178857.5		42,855,4852	A1A1,A1R,RR		10.8403,2.3481,8.1666				939,10559				SO:0001651	inframe_deletion	94137				intracellular signal transduction			g.chr8:10466004_10466024delCTGGGCCTCCCCTTCAGCCTC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5584_5604delGAGGCTGAAGGGGAGGCCCAG	8.37:g.10466004_10466024delCTGGGCCTCCCCTTCAGCCTC	ENSP00000371923:p.Glu1862_Gln1868del	True	False		Somatic	1					p.EAEGEAQ1862del	NM_178857.5	NP_849188.4	WXS	Illumina HiSeq	Phase_I	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5807_5827	-			1862					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	c.5584_5604delGAGGCTGAAGGGGAGGCCCAG	CCDS43708.1																																																																																				0.633	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	0			8:10466004
IDS	3423	broad.mit.edu	37	X	148579704	148579704	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:148579704C>A	ENST00000340855.6	-	5	851	c.642G>T	c.(640-642)acG>acT	p.T214T	IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000422081.2_Silent_p.T3T|IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000370441.4_Silent_p.T214T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	214					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACTGGCTGACGTTTTCATCT	0.532																																						ENST00000340855.6		NA																	0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(640-642)acG>acT		iduronate 2-sulfatase							160.0	136.0	144.0					X																	148579704		2203	4300	6503	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148579704C>A	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.642G>T	X.37:g.148579704C>A		False	False		Somatic	0				IDS_ENST00000370441.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000422081.2_Silent_p.T3T	p.T214T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	WXS	Illumina HiSeq	Phase_I	P22304	IDS_HUMAN			5	851	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		214					D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.642G>T	CCDS14685.1																																																																																				0.532	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3	0			X:148579704
APOL5	80831	broad.mit.edu	37	22	36124922	36124922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:36124922G>A	ENST00000249044.2	+	4	1279	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	427					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGGGAGACAGGCCCCGGGAAG	0.612																																						ENST00000249044.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(1279-1281)Gcc>Acc		apolipoprotein L, 5							68.0	62.0	64.0					22																	36124922		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36124922G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1279G>A	22.37:g.36124922G>A	ENSP00000249044:p.Ala427Thr	True	False		Somatic	0					p.A427T	NM_030642.1	NP_085145.1	WXS	Illumina HiSeq	Phase_I	Q9BWW9	APOL5_HUMAN			4	1279	+			427					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.1279G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555711	0.65425	.	.	ENSG00000128313	ENST00000249044	T	0.05139	3.49	2.28	1.18	0.20946	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.08055	0.003	T	0.42155	-0.9468	9	0.87932	D	0	.	2.8292	0.05495	0.5743:0.0:0.4257:0.0	.	427	Q9BWW9	APOL5_HUMAN	T	427	ENSP00000249044:A427T	ENSP00000249044:A427T	A	+	1	0	APOL5	34454868	0.002000	0.14202	0.057000	0.19452	0.873000	0.50193	1.096000	0.30976	0.380000	0.24823	0.430000	0.28490	GCC		0.612	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	0	NM_030642		22:36124922
TIMM50	92609	broad.mit.edu	37	19	39980444	39980444	+	Missense_Mutation	SNP	G	G	A	rs202166024	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39980444G>A	ENST00000607714.1	+	11	1068	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H|TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000314349.4_Missense_Mutation_p.R452H			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	349					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.R452H(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGTGGCCTCGCTCCAAACAG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		16295	0.0		0.002	False		,,,				2504	0.0					ENST00000314349.4		NA																	1	Substitution - Missense(1)	p.R452H(1)	large_intestine(1)	NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(1354-1356)cGc>cAc		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							52.0	46.0	48.0					19																	39980444		2203	4300	6503	SO:0001583	missense	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39980444G>A	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.1046G>A	19.37:g.39980444G>A	ENSP00000475531:p.Arg349His	False	False		Somatic	0				TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H|TIMM50_ENST00000607714.1_Missense_Mutation_p.R349H	p.R452H	NM_001001563.1	NP_001001563.1	WXS	Illumina HiSeq	Phase_I	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		11	1488	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		349					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.1355G>A		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.56	3.650107	0.67472	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	5.61	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.47716	1.5	0.53688	D	0.999977	D;D	0.71674	0.996;0.998	P;D	0.63703	0.512;0.917	T	0.65138	-0.6241	8	.	.	.	-17.7449	13.3117	0.60384	0.0775:0.0:0.9225:0.0	.	349;452	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	H	452;236	.	.	R	+	2	0	TIMM50	44672284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.227000	0.72282	1.360000	0.45960	0.655000	0.94253	CGC		0.617	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	0	NM_001001563		19:39980444
KIAA1524	57650	broad.mit.edu	37	3	108270112	108270112	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:108270112C>G	ENST00000295746.8	-	21	2678	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	868					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCAAGGACTCTTTCTCTTCC	0.418																																						ENST00000295746.8		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2602-2604)Gag>Cag		KIAA1524							100.0	91.0	94.0					3																	108270112		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108270112C>G	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2602G>C	3.37:g.108270112C>G	ENSP00000295746:p.Glu868Gln	True	False		Somatic	0				KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	p.E868Q	NM_020890.2	NP_065941.2	WXS	Illumina HiSeq	Phase_I	Q8TCG1	CIP2A_HUMAN			21	2678	-			868					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2602G>C	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013192	0.93346	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.55052	0.54;0.54	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74910	-0.3503	10	0.66056	D	0.02	-12.9123	19.4773	0.94994	0.0:1.0:0.0:0.0	.	868	Q8TCG1	CIP2A_HUMAN	Q	709;868	ENSP00000419487:E709Q;ENSP00000295746:E868Q	ENSP00000295746:E868Q	E	-	1	0	KIAA1524	109752802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.308000	0.65768	2.593000	0.87608	0.655000	0.94253	GAG		0.418	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	0	NM_020890		3:108270112
FAT4	79633	broad.mit.edu	37	4	126371342	126371342	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:126371342C>G	ENST00000394329.3	+	9	9184	c.9171C>G	c.(9169-9171)atC>atG	p.I3057M	FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3057	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTTTTTTATCACAGTCACTG	0.398																																						ENST00000394329.3		NA																	0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9169-9171)atC>atG		FAT atypical cadherin 4							81.0	81.0	81.0					4																	126371342		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371342C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9171C>G	4.37:g.126371342C>G	ENSP00000377862:p.Ile3057Met	False	False		Somatic	0				FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	p.I3057M	NM_024582.4	NP_078858.4	WXS	Illumina HiSeq	Phase_I	Q6V0I7	FAT4_HUMAN			9	9184	+			3057			Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9171C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	2.000	-0.429562	0.04701	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.55760	0.5;1.95	5.53	3.77	0.43336	Cadherin (4);Cadherin-like (1);	0.250386	0.20094	U	0.099377	T	0.36082	0.0954	L	0.34521	1.04	0.31081	N	0.711959	B;B;B	0.20459	0.006;0.045;0.016	B;B;B	0.23716	0.005;0.048;0.019	T	0.41251	-0.9519	10	0.72032	D	0.01	.	1.0954	0.01672	0.1406:0.3872:0.2043:0.2679	.	1355;3057;3057	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3057;1355	ENSP00000377862:I3057M;ENSP00000335169:I1355M	ENSP00000335169:I1355M	I	+	3	3	FAT4	126590792	0.985000	0.35326	0.990000	0.47175	0.286000	0.27126	0.286000	0.18902	1.340000	0.45581	0.655000	0.94253	ATC		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	NM_024582		4:126371342
MROH9	80133	broad.mit.edu	37	1	170967515	170967515	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967515G>T	ENST00000367758.3	+	15	1795	c.1696G>T	c.(1696-1698)Ggt>Tgt	p.G566C	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	566																	TCTGAATGTTGGTTCTTACCA	0.403																																						ENST00000367758.3		NA																	0					NA						c.(1696-1698)Ggt>Tgt		maestro heat-like repeat family member 9							132.0	113.0	119.0					1																	170967515		1836	4093	5929	SO:0001583	missense	80133							g.chr1:170967515G>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1696G>T	1.37:g.170967515G>T	ENSP00000356732:p.Gly566Cys	False	False		Somatic	0				MROH9_ENST00000367759.4_Intron	p.G566C	NM_025063.2	NP_079339.2	WXS	Illumina HiSeq	Phase_I					15	1795	+			NA					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1696G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455111	0.26161	.	.	ENSG00000117501	ENST00000367758	T	0.19394	2.15	3.5	0.187	0.15109	.	0.828757	0.10249	N	0.697367	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.42699	-0.9436	10	0.87932	D	0	0.8303	4.3614	0.11205	0.13:0.0:0.318:0.552	.	566	Q5TGP6	CA129_HUMAN	C	566	ENSP00000356732:G566C	ENSP00000356732:G566C	G	+	1	0	C1orf129	169234139	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.564000	0.05936	0.015000	0.14971	0.446000	0.29264	GGT		0.403	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	0	NM_025063		1:170967515
OR9G1	390174	broad.mit.edu	37	11	56468064	56468064	+	Silent	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:56468064T>C	ENST00000312153.1	+	1	201	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATCTGTCGTTTCTGGATCTCT	0.463																																						ENST00000312153.1		NA																	0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(199-201)ttT>ttC		olfactory receptor, family 9, subfamily G, member 1							141.0	124.0	130.0					11																	56468064		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56468064T>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.201T>C	11.37:g.56468064T>C		True	False		Somatic	0					p.F67F	NM_001005213.1	NP_001005213.1	WXS	Illumina HiSeq	Phase_I					1	201	+			NA					Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.201T>C	CCDS31536.1																																																																																				0.463	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	0	NM_001005213		11:56468064
HOMER2	9455	broad.mit.edu	37	15	83527855	83527855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:83527855C>A	ENST00000304231.8	-	5	645	c.453G>T	c.(451-453)aaG>aaT	p.K151N	HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	151					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CGTGAGAGGCCTTTTCATCGT	0.498																																						ENST00000304231.8		NA																	0				cervix(1)|endometrium(2)|lung(6)	9						c.(451-453)aaG>aaT		homer homolog 2 (Drosophila)							159.0	163.0	162.0					15																	83527855		2007	4158	6165	SO:0001583	missense	0				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83527855C>A	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.453G>T	15.37:g.83527855C>A	ENSP00000305632:p.Lys151Asn	True	False		Somatic	0				HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N	p.K151N	NM_199330.2	NP_955362.1	WXS	Illumina HiSeq	Phase_I	Q9NSB8	HOME2_HUMAN			5	645	-			151					O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	37	c.453G>T	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	c	19.00	3.741498	0.69304	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.79454	2.15;-1.27;2.42;2.43	5.39	3.46	0.39613	.	0.094216	0.64402	D	0.000001	T	0.77883	0.4197	L	0.60455	1.87	0.39080	D	0.960886	B;D;D;P	0.57899	0.338;0.981;0.96;0.893	B;P;P;P	0.53360	0.187;0.724;0.711;0.486	T	0.75777	-0.3198	10	0.25106	T	0.35	.	9.2512	0.37555	0.0:0.7746:0.0:0.2254	.	140;151;140;151	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	N	151;140;151;140	ENSP00000305632:K151N;ENSP00000407634:K140N;ENSP00000394293:K151N;ENSP00000382119:K140N	ENSP00000305632:K151N	K	-	3	2	HOMER2	81324909	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.921000	0.40035	1.478000	0.48253	0.651000	0.88453	AAG		0.498	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1	0			15:83527855
LRRK1	79705	broad.mit.edu	37	15	101529485	101529485	+	Missense_Mutation	SNP	G	G	A	rs368091026		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:101529485G>A	ENST00000388948.3	+	6	1003	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q|LRRK1_ENST00000284395.5_Missense_Mutation_p.R212Q	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTGCTTCGGCATGGGGCC	0.483																																						ENST00000284395.5		NA																	0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(634-636)cGg>cAg		leucine-rich repeat kinase 1		G	GLN/ARG	1,3995		0,1,1997	157.0	153.0	154.0		644	4.4	0.2	15		154	0,8382		0,0,4191	no	missense	LRRK1	NM_024652.3	43	0,1,6188	AA,AG,GG		0.0,0.025,0.0081	benign	215/2016	101529485	1,12377	1998	4191	6189	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101529485G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.644G>A	15.37:g.101529485G>A	ENSP00000373600:p.Arg215Gln	False	False		Somatic	0				LRRK1_ENST00000388948.3_Missense_Mutation_p.R215Q|LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q	p.R212Q			WXS	Illumina HiSeq	Phase_I	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		7	1035	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		215						Missense_Mutation	SNP	ENST00000388948.3	37	c.635G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200254	0.38905	2.5E-4	0.0	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.70164	-0.46;-0.06;-0.46	5.27	4.36	0.52297	Ankyrin repeat-containing domain (3);	0.357809	0.27245	N	0.020253	T	0.43590	0.1254	N	0.11560	0.145	0.27090	N	0.962887	B;B	0.23891	0.0;0.093	B;B	0.17098	0.001;0.017	T	0.27468	-1.0073	10	0.26408	T	0.33	.	9.4521	0.38731	0.1609:0.0:0.8391:0.0	.	215;215	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	Q	215;212;215	ENSP00000373600:R215Q;ENSP00000284395:R212Q;ENSP00000433268:R215Q	ENSP00000284395:R212Q	R	+	2	0	LRRK1	99347008	0.896000	0.30565	0.239000	0.24122	0.988000	0.76386	3.161000	0.50747	1.362000	0.46000	0.650000	0.86243	CGG		0.483	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	0	NM_024652		15:101529485
SLCO6A1	133482	broad.mit.edu	37	5	101748803	101748803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:101748803C>T	ENST00000506729.1	-	9	1688	c.1517G>A	c.(1516-1518)tGt>tAt	p.C506Y	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	506	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.C506S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGAGCATCTACATTTTTCATT	0.333																																						ENST00000506729.1		NA																	1	Substitution - Missense(1)	p.C506S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1516-1518)tGt>tAt		solute carrier organic anion transporter family, member 6A1							45.0	46.0	46.0					5																	101748803		2203	4293	6496	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101748803C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1517G>A	5.37:g.101748803C>T	ENSP00000421339:p.Cys506Tyr	False	False		Somatic	0				SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y	p.C506Y			WXS	Illumina HiSeq	Phase_I	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	9	1688	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	506			Kazal-like.		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1517G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077737	0.55753	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.86264	0.5891	H	0.97440	4.005	0.50313	D	0.999866	P;D;D	0.89917	0.933;1.0;0.957	P;D;P	0.87578	0.479;0.998;0.688	D	0.90071	0.4163	10	0.56958	D	0.05	.	15.8626	0.79038	0.0:1.0:0.0:0.0	.	444;253;506	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Y	506;506;444;253;253	ENSP00000421339:C506Y;ENSP00000369135:C506Y;ENSP00000373671:C444Y;ENSP00000421990:C253Y;ENSP00000369138:C253Y	ENSP00000369135:C506Y	C	-	2	0	SLCO6A1	101776702	0.999000	0.42202	0.564000	0.28396	0.046000	0.14306	4.586000	0.60984	2.720000	0.93068	0.655000	0.94253	TGT		0.333	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	0	NM_173488		5:101748803
PCDH10	57575	broad.mit.edu	37	4	134072871	134072871	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:134072871T>G	ENST00000264360.5	+	1	2402	c.1576T>G	c.(1576-1578)Tac>Gac	p.Y526D	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	526	Cadherin 5. {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(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGCTACTTGTACGCCCTGCG	0.597																																						ENST00000264360.5		NA																	0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1576-1578)Tac>Gac		protocadherin 10							64.0	69.0	67.0					4																	134072871		2200	4293	6493	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072871T>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1576T>G	4.37:g.134072871T>G	ENSP00000264360:p.Tyr526Asp	False	False		Somatic	0					p.Y526D	NM_032961.1	NP_116586.1	WXS	Illumina HiSeq	Phase_I	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2402	+			NA			Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1576T>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427385	0.62733	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51574	0.7	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.39146	N	0.001442	T	0.68026	0.2956	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.985	T	0.73020	-0.4114	10	0.87932	D	0	.	12.9618	0.58462	0.0:0.0:0.0:1.0	.	526;526	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	526	ENSP00000264360:Y526D	ENSP00000264360:Y526D	Y	+	1	0	PCDH10	134292321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.836000	0.86788	1.889000	0.54706	0.533000	0.62120	TAC		0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	NM_032961		4:134072871
DAB2IP	153090	broad.mit.edu	37	9	124535711	124535711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:124535711G>T	ENST00000408936.3	+	12	3086	c.2904G>T	c.(2902-2904)agG>agT	p.R968S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	968					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCGCCTGAGGCAGCAGTCCT	0.652																																						ENST00000408936.3		NA																	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2902-2904)agG>agT		DAB2 interacting protein							13.0	16.0	15.0					9																	124535711		2198	4297	6495	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535711G>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2904G>T	9.37:g.124535711G>T	ENSP00000386183:p.Arg968Ser	False	False		Somatic	0				DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S	p.R968S			WXS	Illumina HiSeq	Phase_I	Q5VWQ8	DAB2P_HUMAN			12	3086	+			968					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2904G>T		.	.	.	.	.	.	.	.	.	.	G	10.61	1.397162	0.25205	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.7	3.73	0.42828	.	0.237534	0.39759	N	0.001274	T	0.17534	0.0421	L	0.53561	1.675	0.46954	D	0.999269	B;P	0.35033	0.271;0.481	B;B	0.42738	0.079;0.396	T	0.03852	-1.0998	10	0.13108	T	0.6	.	13.3473	0.60582	0.0:0.1591:0.8409:0.0	.	968;940	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	S	940;968;877;844	ENSP00000259371:R940S;ENSP00000386183:R968S;ENSP00000362887:R877S;ENSP00000310827:R844S	ENSP00000259371:R940S	R	+	3	2	DAB2IP	123575532	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	1.058000	0.30504	2.169000	0.68431	0.313000	0.20887	AGG		0.652	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	0	NM_032552		9:124535711
GRSF1	2926	broad.mit.edu	37	4	71691088	71691088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:71691088T>C	ENST00000254799.6	-	8	1435	c.1318A>G	c.(1318-1320)Act>Gct	p.T440A	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	440	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCTTCTCCAGTGGCCTTCCCA	0.488																																						ENST00000254799.6		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1318-1320)Act>Gct		G-rich RNA sequence binding factor 1							68.0	67.0	67.0					4																	71691088		1989	4182	6171	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691088T>C	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1318A>G	4.37:g.71691088T>C	ENSP00000254799:p.Thr440Ala	False	False		Somatic	0				GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000508091.1_Intron	p.T440A	NM_002092.3	NP_002083	WXS	Illumina HiSeq	Phase_I	Q12849	GRSF1_HUMAN	Lung(101;0.235)		8	1435	-		all_hematologic(202;0.21)	440			RRM 3.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1318A>G	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665232	0.88251	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	6.07	4.88	0.63580	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.044997	0.85682	D	0.000000	T	0.26159	0.0638	M	0.72576	2.205	0.53005	D	0.999964	D;P	0.60160	0.987;0.581	D;P	0.70016	0.967;0.702	T	0.00660	-1.1622	10	0.62326	D	0.03	-9.2706	12.0784	0.53657	0.0:0.0668:0.0:0.9332	.	353;440	B7Z5F9;Q12849	.;GRSF1_HUMAN	A	440;278;372;413;278;322	ENSP00000254799:T440A;ENSP00000389219:T278A;ENSP00000427354:T413A;ENSP00000425430:T278A;ENSP00000443380:T322A	ENSP00000254799:T440A	T	-	1	0	GRSF1	71909952	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.967000	0.70403	1.114000	0.41781	0.533000	0.62120	ACT		0.488	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	0	NM_002092		4:71691088
EGR1	1958	broad.mit.edu	37	5	137803753	137803753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:137803753A>G	ENST00000239938.4	+	2	1887	c.1615A>G	c.(1615-1617)Aca>Gca	p.T539A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	539					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCTCCCAGGACAATTGAAAT	0.502																																						ENST00000239938.4		NA																	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1615-1617)Aca>Gca		early growth response 1							59.0	64.0	62.0					5																	137803753		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803753A>G	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1615A>G	5.37:g.137803753A>G	ENSP00000239938:p.Thr539Ala	False	False		Somatic	0					p.T539A	NM_001964.2	NP_001955.1	WXS	Illumina HiSeq	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1887	+			539						Missense_Mutation	SNP	ENST00000239938.4	37	c.1615A>G	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461456	0.43736	.	.	ENSG00000120738	ENST00000411801;ENST00000239938	T	0.10960	2.82	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	L	0.58101	1.795	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	T	0.01375	-1.1371	10	0.87932	D	0	-6.6955	12.7025	0.57041	1.0:0.0:0.0:0.0	.	539	P18146	EGR1_HUMAN	A	196;539	ENSP00000239938:T539A	ENSP00000239938:T539A	T	+	1	0	EGR1	137831652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.536000	0.90627	1.781000	0.52344	0.533000	0.62120	ACA		0.502	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	0	NM_001964		5:137803753
CSNK2A3	283106	broad.mit.edu	37	11	11373917	11373917	+	Silent	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:11373917C>G	ENST00000528848.2	-	1	987	c.750G>C	c.(748-750)ggG>ggC	p.G250G	RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										AATCTTCTGTCCCCAGAAACT	0.418																																						ENST00000528848.2		NA																	0					NA						c.(748-750)ggG>ggC		casein kinase 2, alpha 3 polypeptide																																				SO:0001819	synonymous_variant	283106							g.chr11:11373917C>G	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.750G>C	11.37:g.11373917C>G		True	False		Somatic	0				GALNT18_ENST00000227756.4_Intron	p.G250G	NM_001256686.1	NP_001243615.1	WXS	Illumina HiSeq	Phase_I					1	987	-			NA						Silent	SNP	ENST00000528848.2	37	c.750G>C	CCDS59224.1																																																																																				0.418	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	0	NM_001256686		11:11373917
KIAA1217	56243	broad.mit.edu	37	10	24762714	24762714	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:24762714C>A	ENST00000376454.3	+	6	1434	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S	KIAA1217_ENST00000376452.3_Silent_p.S468S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000376451.2_Silent_p.S186S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000307544.6_Silent_p.S186S	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	468					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACTGGGCTCCAAAACACCCC	0.507																																						ENST00000376451.2		NA																	0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(556-558)tcC>tcA		KIAA1217							86.0	72.0	77.0					10																	24762714		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762714C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1404C>A	10.37:g.24762714C>A		True	False		Somatic	0				KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000307544.6_Silent_p.S186S|KIAA1217_ENST00000376454.3_Silent_p.S468S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000376452.3_Silent_p.S468S	p.S186S			WXS	Illumina HiSeq	Phase_I	Q5T5P2	SKT_HUMAN			2	818	+			468					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.558C>A	CCDS31165.1																																																																																				0.507	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	0	NM_019590		10:24762714
MYOZ1	58529	broad.mit.edu	37	10	75399731	75399731	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:75399731G>A	ENST00000359322.4	-	2	409	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TCAGCTTGCTGGATTTCCTCT	0.517																																						ENST00000359322.4		NA																	0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(43-45)tcC>tcT		myozenin 1							171.0	147.0	155.0					10																	75399731		2203	4300	6503	SO:0001819	synonymous_variant	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75399731G>A	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.45C>T	10.37:g.75399731G>A		False	False		Somatic	0					p.S15S	NM_021245.3	NP_067068.1	WXS	Illumina HiSeq	Phase_I	Q9NP98	MYOZ1_HUMAN			2	409	-	Prostate(51;0.0112)		15						Silent	SNP	ENST00000359322.4	37	c.45C>T	CCDS7330.1																																																																																				0.517	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1	0			10:75399731
FLG	2312	broad.mit.edu	37	1	152284997	152284997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152284997G>A	ENST00000368799.1	-	3	2400	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	789	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCGAGACCTT	0.567									Ichthyosis																													ENST00000368799.1		NA																	0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2365-2367)Cgt>Tgt		filaggrin							305.0	293.0	297.0					1																	152284997		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284997G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2365C>T	1.37:g.152284997G>A	ENSP00000357789:p.Arg789Cys	False	False		Somatic	0				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R789C	NM_002016.1	NP_002007.1	WXS	Illumina HiSeq	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2400	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		789			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2365C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.373	0.254012	0.10185	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.52	-0.503	0.12000	.	.	.	.	.	T	0.00906	0.0030	M	0.77820	2.39	0.09310	N	1	D	0.64830	0.994	B	0.40038	0.317	T	0.43245	-0.9403	9	0.62326	D	0.03	.	2.9569	0.05880	0.1583:0.0:0.4366:0.4051	.	789	P20930	FILA_HUMAN	C	789	ENSP00000357789:R789C	ENSP00000357789:R789C	R	-	1	0	FLG	150551621	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.133000	0.10451	-0.248000	0.09583	0.479000	0.44913	CGT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	NM_002016		1:152284997
DMD	1756	broad.mit.edu	37	X	31198512	31198512	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:31198512T>A	ENST00000357033.4	-	69	10267	c.10061A>T	c.(10060-10062)tAt>tTt	p.Y3354F	DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000343523.2_Missense_Mutation_p.Y894F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3354	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACCATGGGATAGTGCATTTT	0.418																																						ENST00000357033.4		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(10060-10062)tAt>tTt		dystrophin							128.0	109.0	115.0					X																	31198512		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31198512T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10061A>T	X.37:g.31198512T>A	ENSP00000354923:p.Tyr3354Phe	False	False		Somatic	0				DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F	p.Y3354F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina HiSeq	Phase_I	P11532	DMD_HUMAN			69	10267	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3354			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10061A>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417414	0.83449	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.03	3.8	0.43715	Zinc finger, ZZ-type (1);	0.000000	0.32372	U	0.006187	D	0.92590	0.7646	M	0.83953	2.67	0.58432	D	0.999999	B;D;D;B;D;D;D;D;D;D;D;D;D;D;P;D	0.89917	0.002;0.957;0.997;0.06;0.997;0.997;0.995;0.996;0.996;0.999;0.999;1.0;0.974;0.985;0.743;0.997	B;P;D;B;D;D;D;D;D;D;D;D;D;P;P;D	0.80764	0.003;0.754;0.97;0.018;0.97;0.97;0.962;0.917;0.917;0.986;0.994;0.986;0.969;0.871;0.493;0.97	D	0.92983	0.6408	10	0.87932	D	0	.	10.1983	0.43067	0.1502:0.0:0.0:0.8498	.	286;3346;3354;3350;2013;2010;894;894;894;894;894;3231;286;286;286;286	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	F	3346;2013;2010;286;1050;3350;3354;894;894;3354;3231;894;894;286;894;286;286;144	ENSP00000367997:Y286F;ENSP00000350765:Y1050F;ENSP00000367948:Y3350F;ENSP00000354923:Y3354F;ENSP00000352894:Y894F;ENSP00000340057:Y894F;ENSP00000367979:Y894F;ENSP00000444119:Y894F;ENSP00000367974:Y286F;ENSP00000417123:Y894F;ENSP00000354464:Y286F;ENSP00000367951:Y286F;ENSP00000367977:Y144F	ENSP00000340057:Y894F	Y	-	2	0	DMD	31108433	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.825000	0.86693	1.868000	0.54150	0.441000	0.28932	TAT		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	NM_004006		X:31198512
PCDH11X	27328	broad.mit.edu	37	X	91090988	91090988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1		NA																	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(484-486)gCg>gTg		protocadherin 11 X-linked							36.0	37.0	37.0					X																	91090988		2200	4298	6498	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090988C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.485C>T	X.37:g.91090988C>T	ENSP00000362186:p.Ala162Val	False	False		Somatic	0				PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V	p.A162V	NM_032968.3	NP_116750.1	WXS	Illumina HiSeq	Phase_I	Q9BZA7	PC11X_HUMAN			1	1330	+			162			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.485C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575181	0.28092	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.44	3.54	0.40534	Cadherin (4);Cadherin-like (1);	0.138116	0.49916	D	0.000122	T	0.29190	0.0726	N	0.11651	0.15	0.35926	D	0.832189	B;B;P;P;P;P;B;B	0.37101	0.083;0.191;0.526;0.526;0.526;0.582;0.047;0.047	B;B;B;B;B;B;B;B	0.31442	0.018;0.036;0.08;0.08;0.08;0.13;0.019;0.019	T	0.31503	-0.9941	10	0.25106	T	0.35	.	12.5927	0.56451	0.0:0.836:0.164:0.0	.	162;162;162;162;162;162;162;162	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	162	ENSP00000378746:A162V;ENSP00000362186:A162V;ENSP00000362189:A162V;ENSP00000355040:A162V;ENSP00000362180:A162V;ENSP00000423762:A162V;ENSP00000355105:A162V;ENSP00000384758:A162V;ENSP00000298274:A162V	ENSP00000298274:A162V	A	+	2	0	PCDH11X	90977644	0.999000	0.42202	0.953000	0.39169	0.537000	0.34900	4.217000	0.58547	0.938000	0.37419	0.506000	0.49869	GCG		0.343	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	0	NM_032969		X:91090988
COL5A3	50509	broad.mit.edu	37	19	10081324	10081324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:10081324C>T	ENST00000264828.3	-	54	3995	c.3910G>A	c.(3910-3912)Ggc>Agc	p.G1304S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1304	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ccgggggcgccgggcTCCCCA	0.607																																						ENST00000264828.3		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3910-3912)Ggc>Agc		collagen, type V, alpha 3							8.0	9.0	8.0					19																	10081324		2154	4209	6363	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10081324C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3910G>A	19.37:g.10081324C>T	ENSP00000264828:p.Gly1304Ser	True	False		Somatic	0					p.G1304S	NM_015719.3	NP_056534.2	WXS	Illumina HiSeq	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		54	3995	-			1304			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3910G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.851005	0.32699	.	.	ENSG00000080573	ENST00000264828	D	0.99607	-6.27	3.28	3.28	0.37604	.	0.000000	0.64402	U	0.000001	D	0.99651	0.9871	H	0.94658	3.565	0.51482	D	0.999926	D	0.89917	1.0	D	0.85130	0.997	D	0.97697	1.0182	10	0.87932	D	0	.	10.3456	0.43903	0.0:1.0:0.0:0.0	.	1304	P25940	CO5A3_HUMAN	S	1304	ENSP00000264828:G1304S	ENSP00000264828:G1304S	G	-	1	0	COL5A3	9942324	0.354000	0.24912	0.334000	0.25495	0.015000	0.08874	2.226000	0.42963	2.126000	0.65437	0.486000	0.48141	GGC		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	0	NM_015719		19:10081324
KCNA2	3737	broad.mit.edu	37	1	111147355	111147355	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:111147355C>A	ENST00000485317.1	-	3	723	c.50G>T	c.(49-51)gGg>gTg	p.G17V	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V|KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	17					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CTGTGGGTGCCCAGGGAGGGC	0.597																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(49-51)gGg>gTg		potassium voltage-gated channel, shaker-related subfamily, member 2							97.0	101.0	100.0					1																	111147355		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147355C>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.50G>T	1.37:g.111147355C>A	ENSP00000433109:p.Gly17Val	True	False		Somatic	0				KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V	p.G17V			WXS	Illumina HiSeq	Phase_I	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	723	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	17					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.50G>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638576	0.67130	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96334	-1.29;-3.98;-3.98;-3.98	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	L	0.56769	1.78	0.80722	D	1	B;P	0.45011	0.262;0.848	B;P	0.52823	0.101;0.71	D	0.94141	0.7397	10	0.17369	T	0.5	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	17;17	Q86XG6;P16389	.;KCNA2_HUMAN	V	17	ENSP00000358785:G17V;ENSP00000433109:G17V;ENSP00000415257:G17V;ENSP00000314520:G17V	ENSP00000314520:G17V	G	-	2	0	KCNA2	110948878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.713000	0.92767	0.655000	0.94253	GGG		0.597	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	0	NM_004974		1:111147355
NPAT	4863	broad.mit.edu	37	11	108032080	108032080	+	Missense_Mutation	SNP	C	C	T	rs576905510		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:108032080C>T	ENST00000278612.8	-	17	3838	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1245	Required for acceleration of G1 phase.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGTAACATTTCTGTGGTAATC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19177	0.0		0.001	False		,,,				2504	0.0					ENST00000278612.8		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3733-3735)Gaa>Aaa		nuclear protein, ataxia-telangiectasia locus							170.0	172.0	171.0					11																	108032080		1854	4102	5956	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032080C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3733G>A	11.37:g.108032080C>T	ENSP00000278612:p.Glu1245Lys	True	False		Somatic	0					p.E1245K	NM_002519.2	NP_002510.2	WXS	Illumina HiSeq	Phase_I	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3838	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1245			Required for acceleration of G1 phase.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3733G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616831	0.66672	.	.	ENSG00000149308	ENST00000278612	T	0.07567	3.18	5.24	5.24	0.73138	.	0.300838	0.34580	N	0.003851	T	0.23289	0.0563	M	0.69823	2.125	0.58432	D	0.999999	D	0.55385	0.971	P	0.53401	0.725	T	0.00164	-1.1968	10	0.66056	D	0.02	-12.4987	19.3787	0.94523	0.0:1.0:0.0:0.0	.	1245	Q14207	NPAT_HUMAN	K	1245	ENSP00000278612:E1245K	ENSP00000278612:E1245K	E	-	1	0	NPAT	107537290	1.000000	0.71417	0.909000	0.35828	0.109000	0.19521	6.781000	0.75068	2.890000	0.99128	0.650000	0.86243	GAA		0.433	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	0	NM_002519		11:108032080
FLNB	2317	broad.mit.edu	37	3	58134060	58134060	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58134060T>A	ENST00000295956.4	+	35	6021	c.5856T>A	c.(5854-5856)tgT>tgA	p.C1952*	FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1952	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACGAGCCCTGTCTCCTGAAGA	0.602																																						ENST00000357272.4		NA																	0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(5854-5856)tgT>tgA		filamin B, beta							41.0	36.0	38.0					3																	58134060		2203	4300	6503	SO:0001587	stop_gained	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58134060T>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5856T>A	3.37:g.58134060T>A	ENSP00000295956:p.Cys1952*	False	False		Somatic	0				FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*	p.C1952*			WXS	Illumina HiSeq	Phase_I	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	35	6021	+			1952			Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	ENST00000295956.4	37	c.5856T>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	T	46	12.749215	0.99693	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	6.17	-0.893	0.10567	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3262	0.55011	0.0:0.4478:0.0:0.5522	.	.	.	.	X	1952;1983;1928;1941;1952;1952;1759;1772	.	ENSP00000295956:C1952X	C	+	3	2	FLNB	58109100	0.944000	0.32072	0.994000	0.49952	0.995000	0.86356	0.021000	0.13489	-0.232000	0.09811	0.533000	0.62120	TGT		0.602	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	0	NM_001457		3:58134060
FLNA	2316	broad.mit.edu	37	X	153577233	153577233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:153577233C>T	ENST00000369850.3	-	48	8164	c.7928G>A	c.(7927-7929)cGc>cAc	p.R2643H	FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000422373.1_Missense_Mutation_p.R2635H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2643	Self-association site, tail.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCACAACGCGGTAGGGGCT	0.687																																						ENST00000422373.1		NA																	0				breast(6)	6						c.(7903-7905)cGc>cAc		filamin A, alpha							60.0	65.0	64.0					X																	153577233		2061	4161	6222	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153577233C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7928G>A	X.37:g.153577233C>T	ENSP00000358866:p.Arg2643His	False	False		Somatic	0				FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000369850.3_Missense_Mutation_p.R2643H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H	p.R2635H	NM_001456.3	NP_001447.2	WXS	Illumina HiSeq	Phase_I	P21333	FLNA_HUMAN			47	8152	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2643			Self-association site, tail.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.7904G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570226	0.28003	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.74	3.7	0.42460	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062457	0.64402	D	0.000011	T	0.61022	0.2314	N	0.03948	-0.315	0.35918	D	0.831602	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.15484	0.001;0.001;0.013;0.013	T	0.53809	-0.8386	10	0.17832	T	0.49	.	2.1844	0.03882	0.0:0.3694:0.3076:0.323	.	776;2635;2643;2643	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	H	2635;2311;2635;2643;776;2603	ENSP00000353467:R2635H;ENSP00000416926:R2635H;ENSP00000358866:R2643H;ENSP00000358872:R776H;ENSP00000358863:R2603H	ENSP00000358863:R2603H	R	-	2	0	FLNA	153230427	0.644000	0.27277	0.766000	0.31476	0.858000	0.48976	1.084000	0.30828	1.172000	0.42781	0.529000	0.55759	CGC		0.687	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	0			X:153577233
PTGS1	5742	broad.mit.edu	37	9	125140773	125140773	+	Silent	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125140773G>T	ENST00000362012.2	+	4	278	c.273G>T	c.(271-273)ctG>ctT	p.L91L	PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Silent_p.L91L	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	91					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCCACTTCCTGCTCACTCACG	0.622																																						ENST00000362012.2		NA																	0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(271-273)ctG>ctT		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						87.0	90.0	89.0					9																	125140773		2203	4300	6503	SO:0001819	synonymous_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125140773G>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.273G>T	9.37:g.125140773G>T		True	False		Somatic	0				PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR	p.L91L	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	WXS	Illumina HiSeq	Phase_I	P23219	PGH1_HUMAN			4	278	+			91					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.273G>T	CCDS6842.1																																																																																				0.622	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1	0			9:125140773
ASB9	140462	broad.mit.edu	37	X	15266926	15266926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266926G>A	ENST00000380488.4	-	6	973	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ASB9_ENST00000546332.1_Missense_Mutation_p.R234C|ASB9_ENST00000380485.3_Missense_Mutation_p.R234C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	234					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TCCACAGGACGTTTGCCTTCA	0.557																																						ENST00000546332.1		NA																	0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(700-702)Cgt>Tgt		ankyrin repeat and SOCS box containing 9							89.0	77.0	81.0					X																	15266926		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15266926G>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.700C>T	X.37:g.15266926G>A	ENSP00000369855:p.Arg234Cys	True	False		Somatic	0				ASB9_ENST00000380485.3_Missense_Mutation_p.R234C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000380488.4_Missense_Mutation_p.R234C	p.R234C	NM_001168531.1	NP_001162003.1	WXS	Illumina HiSeq	Phase_I	Q96DX5	ASB9_HUMAN			7	1183	-	Hepatocellular(33;0.183)		234					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.700C>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580533	0.28180	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.92	4.17	0.49024	Ankyrin repeat-containing domain (3);	0.273432	0.42420	N	0.000717	T	0.41328	0.1154	L	0.54965	1.715	0.49483	D	0.999798	B;B;B;B	0.29188	0.236;0.05;0.03;0.157	B;B;B;B	0.29598	0.104;0.019;0.012;0.026	T	0.29941	-0.9995	10	0.62326	D	0.03	-10.1573	7.8005	0.29172	0.1464:0.0:0.7222:0.1313	.	205;224;234;234	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	C	224;234;234;234	ENSP00000369850:R224C;ENSP00000369852:R234C;ENSP00000369855:R234C;ENSP00000438943:R234C	ENSP00000369850:R224C	R	-	1	0	ASB9	15176847	0.993000	0.37304	0.143000	0.22291	0.565000	0.35776	1.270000	0.33086	0.638000	0.30545	-0.208000	0.12717	CGT		0.557	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1	0			X:15266926
DAAM1	23002	broad.mit.edu	37	14	59789651	59789651	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:59789651T>G	ENST00000395125.1	+	5	505	c.482T>G	c.(481-483)aTc>aGc	p.I161S	DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S|DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	161	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTATCATGTATCCTCAACTTT	0.418																																						ENST00000395125.1		NA																	0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(481-483)aTc>aGc		dishevelled associated activator of morphogenesis 1							147.0	141.0	143.0					14																	59789651		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59789651T>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.482T>G	14.37:g.59789651T>G	ENSP00000378557:p.Ile161Ser	False	False		Somatic	0				DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S|DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S	p.I161S	NM_014992.2	NP_055807.1	WXS	Illumina HiSeq	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	5	505	+			161			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.482T>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954100	0.73902	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89050	-2.46;-2.46;-2.46	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	L	0.44542	1.39	0.80722	D	1	D;D	0.54207	0.957;0.965	P;P	0.55749	0.677;0.783	D	0.91609	0.5301	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	161;161	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	S	161	ENSP00000354162:I161S;ENSP00000247170:I161S;ENSP00000378557:I161S	ENSP00000247170:I161S	I	+	2	0	DAAM1	58859404	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATC		0.418	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	0	NM_014992		14:59789651
PTPN13	5783	broad.mit.edu	37	4	87684337	87684337	+	Silent	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:87684337A>T	ENST00000411767.2	+	24	4074	c.4011A>T	c.(4009-4011)ccA>ccT	p.P1337P	PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000427191.2_Silent_p.P1318P|PTPN13_ENST00000436978.1_Silent_p.P1337P			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1337					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCAAACACCAAAACAGGCAT	0.363																																						ENST00000436978.1		NA																	0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4009-4011)ccA>ccT		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							95.0	93.0	94.0					4																	87684337		1865	4115	5980	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87684337A>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4011A>T	4.37:g.87684337A>T		True	False		Somatic	0				PTPN13_ENST00000411767.2_Silent_p.P1337P|PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P	p.P1337P	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	WXS	Illumina HiSeq	Phase_I	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	24	4491	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1337					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.4011A>T	CCDS47094.1																																																																																				0.363	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	0			4:87684337
ZFYVE9	9372	broad.mit.edu	37	1	52740258	52740258	+	Splice_Site	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:52740258T>C	ENST00000371591.1	+	7	2877		c.e7+2		ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000287727.3_Splice_Site	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9						endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAAAAGGAGGTAAGTGGACTA	0.398																																						ENST00000287727.3		NA																	0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.e8+2		zinc finger, FYVE domain containing 9							122.0	109.0	113.0					1																	52740258		2203	4300	6503	SO:0001630	splice_region_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52740258T>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2746+2T>C	1.37:g.52740258T>C		False	False		Somatic	0				ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000371591.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	O95405	ZFYV9_HUMAN			8	2918	+			NA					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Splice_Site	SNP	ENST00000371591.1	37		CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598319	0.46318	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	.	.	.	5.27	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3915	0.55360	0.0:0.0:0.1407:0.8593	.	.	.	.	.	-1	.	.	.	+	.	.	ZFYVE9	52512846	1.000000	0.71417	0.998000	0.56505	0.451000	0.32288	7.744000	0.85034	0.832000	0.34804	-0.313000	0.08912	.		0.398	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	0	NM_007324	Intron	1:52740258
TERT	7015	broad.mit.edu	37	5	1253880	1253880	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:1253880G>T	ENST00000310581.5	-	16	3419	c.3362C>A	c.(3361-3363)cCg>cAg	p.P1121Q	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1121	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GGGCAGTGCCGGGTTGGCTGC	0.662									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(3361-3363)cCg>cAg		telomerase reverse transcriptase							21.0	29.0	27.0					5																	1253880		2170	4259	6429	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1253880G>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3362C>A	5.37:g.1253880G>T	ENSP00000309572:p.Pro1121Gln	True	False		Somatic	0				TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q	p.P1121Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	WXS	Illumina HiSeq	Phase_I	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		16	3419	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		1121			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.3362C>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	g	16.53	3.147750	0.57151	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.97870	-4.58;-4.31	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.98501	1.0614	10	0.66056	D	0.02	-17.5136	11.4366	0.50072	0.0:0.0:1.0:0.0	.	1058;1121	O14746-3;O14746	.;TERT_HUMAN	Q	1121;1058	ENSP00000309572:P1121Q;ENSP00000334346:P1058Q	ENSP00000309572:P1121Q	P	-	2	0	TERT	1306880	0.987000	0.35691	0.320000	0.25306	0.012000	0.07955	2.740000	0.47418	2.134000	0.65973	0.561000	0.74099	CCG		0.662	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	0			5:1253880
FLNB	2317	broad.mit.edu	37	3	58107201	58107201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58107201G>A	ENST00000295956.4	+	20	3262	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000357272.4_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1033					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTACACAGTGGAGGCCTCGCT	0.567																																						ENST00000357272.4		NA																	0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3097-3099)Gag>Aag		filamin B, beta							100.0	106.0	104.0					3																	58107201		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58107201G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3097G>A	3.37:g.58107201G>A	ENSP00000295956:p.Glu1033Lys	False	False		Somatic	0				FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K	p.E1033K			WXS	Illumina HiSeq	Phase_I	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	20	3262	+			1033					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.3097G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855482	0.91355	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.87	5.87	0.94306	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.136651	0.64402	D	0.000004	T	0.49660	0.1570	L	0.35723	1.085	0.80722	D	1	P;P;B;B;P;P	0.48640	0.913;0.893;0.415;0.121;0.774;0.774	P;P;B;B;B;B	0.52217	0.693;0.493;0.299;0.246;0.345;0.345	T	0.36480	-0.9746	10	0.46703	T	0.11	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1033;1033;864;864;1033;1033	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	1033;1033;1033;1033;1033;1033;864;864	ENSP00000295956:E1033K;ENSP00000420213:E1033K;ENSP00000351339:E1033K;ENSP00000415599:E1033K;ENSP00000232447:E1033K;ENSP00000349819:E1033K;ENSP00000418510:E864K;ENSP00000414532:E864K	ENSP00000295956:E1033K	E	+	1	0	FLNB	58082241	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	7.890000	0.87313	2.780000	0.95670	0.655000	0.94253	GAG		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	0	NM_001457		3:58107201
DLGAP2	9228	broad.mit.edu	37	8	1497384	1497384	+	Silent	SNP	C	C	T	rs373372500		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:1497384C>T	ENST00000421627.2	+	2	659	c.525C>T	c.(523-525)aaC>aaT	p.N175N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	254					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCAACGCCAACGGCACCAAGG	0.672																																						ENST00000421627.2		NA																	0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(523-525)aaC>aaT		discs, large (Drosophila) homolog-associated protein 2		C		6,4336		0,6,2165	14.0	21.0	19.0		525	-4.4	0.0	8		19	1,8561		0,1,4280	no	coding-synonymous	DLGAP2	NM_004745.3		0,7,6445	TT,TC,CC		0.0117,0.1382,0.0542		175/976	1497384	7,12897	2171	4281	6452	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497384C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.525C>T	8.37:g.1497384C>T		False	False		Somatic	0					p.N175N	NM_004745.3	NP_004736.2	WXS	Illumina HiSeq	Phase_I	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	659	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	254					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.525C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	1.430	-0.570388	0.03910	0.001382	1.17E-4	ENSG00000198010	ENST00000520901	.	.	.	5.57	-4.39	0.03611	.	.	.	.	.	T	0.63616	0.2526	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63377	-0.6651	4	.	.	.	-13.2071	15.0453	0.71822	0.0:0.285:0.0:0.715	.	.	.	.	M	192	.	.	T	+	2	0	DLGAP2	1484791	0.085000	0.21516	0.019000	0.16419	0.196000	0.23810	-0.644000	0.05415	-0.909000	0.03852	-0.783000	0.03347	ACG		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	0	NM_004745		8:1497384
CCSER2	54462	broad.mit.edu	37	10	86131917	86131917	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:86131917A>T	ENST00000224756.8	+	2	1294	c.1109A>T	c.(1108-1110)aAt>aTt	p.N370I	CCSER2_ENST00000372088.2_Missense_Mutation_p.N370I|CCSER2_ENST00000359979.4_Missense_Mutation_p.N370I	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	370					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CTGATTGAAAATGAAAGTTAT	0.378																																						ENST00000224756.8		NA																	0					NA						c.(1108-1110)aAt>aTt		coiled-coil serine-rich protein 2							93.0	91.0	92.0					10																	86131917		2203	4300	6503	SO:0001583	missense	54462							g.chr10:86131917A>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1109A>T	10.37:g.86131917A>T	ENSP00000224756:p.Asn370Ile	True	False		Somatic	0				CCSER2_ENST00000359979.4_Missense_Mutation_p.N370I|CCSER2_ENST00000372088.2_Missense_Mutation_p.N370I	p.N370I	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	WXS	Illumina HiSeq	Phase_I					2	1294	+			NA					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1109A>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699591	0.48307	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.50001	0.76;2.1;2.08	5.73	5.73	0.89815	.	0.239465	0.36665	N	0.002479	T	0.57814	0.2079	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.992	D;P;P	0.65010	0.931;0.837;0.839	T	0.61382	-0.7074	10	0.72032	D	0.01	-21.1188	8.5083	0.33201	0.9147:0.0:0.0853:0.0	.	370;370;370	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	I	370	ENSP00000353068:N370I;ENSP00000224756:N370I;ENSP00000361160:N370I	ENSP00000224756:N370I	N	+	2	0	FAM190B	86121897	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.214000	0.51161	2.197000	0.70478	0.533000	0.62120	AAT		0.378	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	0	NM_018999		10:86131917
PRSS35	167681	broad.mit.edu	37	6	84233558	84233558	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:84233558T>C	ENST00000369700.3	+	2	575	c.398T>C	c.(397-399)aTc>aCc	p.I133T	PRSS35_ENST00000536636.1_Missense_Mutation_p.I133T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	133	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGGTTCAGCATCTTGGACAAA	0.458																																						ENST00000536636.1		NA																	0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(397-399)aTc>aCc		protease, serine, 35							98.0	93.0	95.0					6																	84233558		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233558T>C	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.398T>C	6.37:g.84233558T>C	ENSP00000358714:p.Ile133Thr	False	False		Somatic	0				PRSS35_ENST00000369700.3_Missense_Mutation_p.I133T	p.I133T	NM_001170423.1	NP_001163894.1	WXS	Illumina HiSeq	Phase_I	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	743	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	133			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.398T>C	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078192	0.76528	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.50277	0.75;0.75	5.78	5.78	0.91487	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72944	-0.4138	10	0.87932	D	0	-14.2535	16.0993	0.81158	0.0:0.0:0.0:1.0	.	133	Q8N3Z0	PRS35_HUMAN	T	133	ENSP00000440870:I133T;ENSP00000358714:I133T	ENSP00000358714:I133T	I	+	2	0	PRSS35	84290277	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.698000	0.84413	2.207000	0.71202	0.459000	0.35465	ATC		0.458	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	0	NM_153362		6:84233558
ADAMTSL2	9719	broad.mit.edu	37	9	136402618	136402618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:136402618G>A	ENST00000354484.4	+	3	739	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H|ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.R170H	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	61	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCGTGTTCCCGCAGTTGCGGG	0.672																																						ENST00000393061.3		NA																	0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.(508-510)cGc>cAc		ADAMTS-like 2							34.0	40.0	38.0					9																	136402618		2203	4298	6501	SO:0001583	missense	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136402618G>A	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.182G>A	9.37:g.136402618G>A	ENSP00000346478:p.Arg61His	True	False		Somatic	0				ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R61H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H	p.R170H			WXS	Illumina HiSeq	Phase_I	Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	3	941	+			61					B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	c.509G>A	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156452	0.94686	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.52983	0.64;0.64;0.64	4.84	4.84	0.62591	.	0.000000	0.56097	U	0.000031	T	0.74496	0.3724	M	0.88704	2.975	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.81093	-0.1089	10	0.87932	D	0	.	17.9259	0.88983	0.0:0.0:1.0:0.0	.	61	Q86TH1	ATL2_HUMAN	H	61;170;61	ENSP00000346478:R61H;ENSP00000376781:R170H;ENSP00000376780:R61H	ENSP00000346478:R61H	R	+	2	0	ADAMTSL2	135392439	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.401000	0.97294	2.229000	0.72834	0.491000	0.48974	CGC		0.672	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	0	NM_014694		9:136402618
AC096579.13	0	broad.mit.edu	37	2	89111197	89111197	+	RNA	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:89111197C>T	ENST00000452230.1	-	0	207				MIR4436A_ENST00000585278.1_RNA																							AGCATGGTGACGAAGGCGAAG	0.562																																						ENST00000452230.1		NA																	0					NA																																														0							g.chr2:89111197C>T																													2.37:g.89111197C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	207	-			NA						RNA	SNP	ENST00000452230.1	37																																																																																						0.562	AC096579.13-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323493.1	0			2:89111197
ITK	3702	broad.mit.edu	37	5	156608099	156608099	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:156608099C>T	ENST00000422843.3	+	1	263	c.111C>T	c.(109-111)agC>agT	p.S37S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	37	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCAAAGCCAGCCTGGCATACT	0.398			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3		NA		Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(109-111)agC>agT		IL2-inducible T-cell kinase							128.0	123.0	125.0					5																	156608099		2203	4300	6503	SO:0001819	synonymous_variant	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156608099C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.111C>T	5.37:g.156608099C>T		True	False		Somatic	0					p.S37S	NM_005546.3	NP_005537.3	WXS	Illumina HiSeq	Phase_I	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	263	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	37			PH.		B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	c.111C>T	CCDS4336.1																																																																																				0.398	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2	0			5:156608099
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578406
CXorf22	170063	broad.mit.edu	37	X	35989882	35989882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:35989882G>A	ENST00000297866.5	+	12	2216	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	717										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGTCTGTGAGAAGAAAGGCA	0.368																																						ENST00000297866.5		NA																	0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2149-2151)aGa>aAa		chromosome X open reading frame 22							54.0	49.0	51.0					X																	35989882		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989882G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2150G>A	X.37:g.35989882G>A	ENSP00000297866:p.Arg717Lys	False	False		Somatic	0					p.R717K	NM_152632.3	NP_689845.2	WXS	Illumina HiSeq	Phase_I	Q6ZTR5	CX022_HUMAN			12	2216	+			717					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2150G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.793016	0.00623	.	.	ENSG00000165164	ENST00000297866	T	0.13307	2.6	5.6	-7.87	0.01183	.	1.479880	0.03603	N	0.233690	T	0.05547	0.0146	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43081	-0.9413	10	0.06365	T	0.9	-14.1458	12.5433	0.56184	0.7855:0.1024:0.1122:0.0	.	717	Q6ZTR5	CX022_HUMAN	K	717	ENSP00000297866:R717K	ENSP00000297866:R717K	R	+	2	0	CXorf22	35899803	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.217000	0.02979	-1.390000	0.02087	-0.190000	0.12839	AGA		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	0	NM_152632		X:35989882
FLT4	2324	broad.mit.edu	37	5	180057054	180057054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:180057054G>A	ENST00000261937.6	-	5	643	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	189	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCATGCCCCGCCGGTCATCC	0.647																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(565-567)Cgg>Tgg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						72.0	67.0	69.0					5																	180057054		2200	4297	6497	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057054G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.565C>T	5.37:g.180057054G>A	ENSP00000261937:p.Arg189Trp	True	False		Somatic	0				FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W|FLT4_ENST00000424276.2_5'UTR	p.R189W	NM_182925.4	NP_891555.2	WXS	Illumina HiSeq	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	643	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	189			Ig-like C2-type 2.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.565C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611614	0.66558	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.05258	3.47;3.47;3.47	5.16	3.02	0.34903	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17152	0.0412	M	0.65975	2.015	0.38025	D	0.934989	D;D;D;D	0.89917	0.999;1.0;0.989;0.989	P;D;P;P	0.65010	0.855;0.931;0.677;0.582	T	0.02138	-1.1207	9	0.56958	D	0.05	.	7.5225	0.27637	0.0:0.1296:0.4182:0.4522	.	189;189;189;189	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	W	189	ENSP00000261937:R189W;ENSP00000377016:R189W;ENSP00000426057:R189W	ENSP00000261937:R189W	R	-	1	2	FLT4	179989660	0.824000	0.29247	1.000000	0.80357	0.821000	0.46438	0.873000	0.28052	1.262000	0.44165	0.561000	0.74099	CGG		0.647	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	0			5:180057054
ASB9	140462	broad.mit.edu	37	X	15266898	15266898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266898C>T	ENST00000380488.4	-	6	1001	c.728G>A	c.(727-729)aGc>aAc	p.S243N	ASB9_ENST00000546332.1_Missense_Mutation_p.S243N|ASB9_ENST00000380485.3_Missense_Mutation_p.S243N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	243	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GGCCAAGGGGCTCTCTGGAGG	0.557																																						ENST00000546332.1		NA																	0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(727-729)aGc>aAc		ankyrin repeat and SOCS box containing 9							76.0	71.0	73.0					X																	15266898		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15266898C>T	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.728G>A	X.37:g.15266898C>T	ENSP00000369855:p.Ser243Asn	True	False		Somatic	0				ASB9_ENST00000380485.3_Missense_Mutation_p.S243N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000380488.4_Missense_Mutation_p.S243N	p.S243N	NM_001168531.1	NP_001162003.1	WXS	Illumina HiSeq	Phase_I	Q96DX5	ASB9_HUMAN			7	1211	-	Hepatocellular(33;0.183)		243			SOCS box.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.728G>A	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	6.967	0.548435	0.13312	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	0.99;-0.17;-0.12;-0.17	5.78	1.15	0.20763	.	0.332697	0.42682	N	0.000673	T	0.47967	0.1474	L	0.39467	1.215	0.09310	N	1	B;B;B;B	0.24576	0.035;0.003;0.051;0.106	B;B;B;B	0.28139	0.019;0.005;0.086;0.063	T	0.35649	-0.9780	10	0.40728	T	0.16	-4.9969	6.2251	0.20703	0.0:0.6104:0.1283:0.2613	.	214;233;243;243	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	N	233;243;243;243	ENSP00000369850:S233N;ENSP00000369852:S243N;ENSP00000369855:S243N;ENSP00000438943:S243N	ENSP00000369850:S233N	S	-	2	0	ASB9	15176819	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.883000	0.28200	-0.105000	0.12132	-0.191000	0.12829	AGC		0.557	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1	0			X:15266898
HEPH	9843	broad.mit.edu	37	X	65409671	65409671	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:65409671C>T	ENST00000343002.2	+	5	1618	c.954C>T	c.(952-954)caC>caT	p.H318H	HEPH_ENST00000441993.2_Silent_p.H321H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000519389.1_Silent_p.H372H			Q9BQS7	HEPH_HUMAN	hephaestin	318	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCGTGGACACCACACTGATG	0.507																																						ENST00000519389.1		NA																	0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1114-1116)caC>caT		hephaestin							132.0	91.0	105.0					X																	65409671		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65409671C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.954C>T	X.37:g.65409671C>T		False	False		Somatic	0				HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H|HEPH_ENST00000343002.2_Silent_p.H318H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H	p.H372H			WXS	Illumina HiSeq	Phase_I	Q9BQS7	HEPH_HUMAN			6	1295	+			318					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.1116C>T																																																																																					0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	0	NM_138737		X:65409671
HCK	3055	broad.mit.edu	37	20	30662501	30662501	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:30662501C>T	ENST00000520553.1	+	5	588	c.342C>T	c.(340-342)cgC>cgT	p.R114R	HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000534862.1_Silent_p.R115R	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	135	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	ATGTCGCCCGCGTTGACTCTC	0.552																																						ENST00000534862.1		NA																	0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(343-345)cgC>cgT		hemopoietic cell kinase							100.0	96.0	98.0					20																	30662501		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30662501C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.342C>T	20.37:g.30662501C>T		False	False		Somatic	0				HCK_ENST00000520553.1_Silent_p.R114R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000375862.2_Silent_p.R134R	p.R115R	NM_001172132.1	NP_001165603.1	WXS	Illumina HiSeq	Phase_I	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		6	708	+			135			SH3.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.345C>T	CCDS54455.1																																																																																				0.552	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1	0			20:30662501
OR1K1	392392	broad.mit.edu	37	9	125563309	125563309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125563309G>A	ENST00000277309.2	+	1	940	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGGGCACTCCGAGCCCTTCTC	0.582																																						ENST00000277309.2		NA																	0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(907-909)cGa>cAa		olfactory receptor, family 1, subfamily K, member 1							47.0	43.0	44.0					9																	125563309		2203	4300	6503	SO:0001583	missense	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563309G>A	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.908G>A	9.37:g.125563309G>A	ENSP00000277309:p.Arg303Gln	False	False		Somatic	0					p.R303Q	NM_080859.1	NP_543135.1	WXS	Illumina HiSeq	Phase_I	Q8NGR3	OR1K1_HUMAN			1	940	+			303					B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	c.908G>A	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211147	0.09757	.	.	ENSG00000165204	ENST00000277309	T	0.39406	1.08	4.49	1.68	0.24146	.	0.252216	0.20517	N	0.090769	T	0.24547	0.0595	N	0.22421	0.69	0.09310	N	0.999999	B	0.15719	0.014	B	0.09377	0.004	T	0.16867	-1.0388	10	0.23891	T	0.37	.	8.1058	0.30885	0.2689:0.0:0.7311:0.0	.	303	Q8NGR3	OR1K1_HUMAN	Q	303	ENSP00000277309:R303Q	ENSP00000277309:R303Q	R	+	2	0	OR1K1	124603130	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	0.119000	0.15626	0.171000	0.19730	-0.244000	0.11960	CGA		0.582	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1	0			9:125563309
PPEF1	5475	broad.mit.edu	37	X	18845404	18845404	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:18845404C>T	ENST00000361511.4	+	19	2255	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	PPEF1_ENST00000349874.5_Silent_p.S525S|PPEF1_ENST00000359763.6_Silent_p.S534S|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000543630.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	587	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GCCTGATCTCCGTGGAAGAAT	0.418																																						ENST00000361511.4		NA																	0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1759-1761)tcC>tcT		protein phosphatase, EF-hand calcium binding domain 1							80.0	75.0	77.0					X																	18845404		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18845404C>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1761C>T	X.37:g.18845404C>T		False	False		Somatic	0				PPEF1_ENST00000359763.6_Silent_p.S534S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000349874.5_Silent_p.S525S	p.S587S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	WXS	Illumina HiSeq	Phase_I	O14829	PPE1_HUMAN			19	2255	+	Hepatocellular(33;0.183)		587			EF-hand 2.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.1761C>T	CCDS14188.1																																																																																				0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	0	NM_006240		X:18845404
CCDC81	60494	broad.mit.edu	37	11	86131064	86131064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:86131064C>T	ENST00000445632.2	+	14	2058	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	CCDC81_ENST00000278487.3_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	596										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GATGAAGAAGCAGCGAGACCT	0.517																																						ENST00000278487.3		NA																	0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(991-993)Cag>Tag		coiled-coil domain containing 81							136.0	113.0	121.0					11																	86131064		2202	4299	6501	SO:0001587	stop_gained	60494							g.chr11:86131064C>T	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1786C>T	11.37:g.86131064C>T	ENSP00000415528:p.Gln596*	False	False		Somatic	0				CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000445632.2_Nonsense_Mutation_p.Q596*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*	p.Q331*			WXS	Illumina HiSeq	Phase_I	Q6ZN84	CCD81_HUMAN			13	2070	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	596					A0AVL7|Q53FW3|Q9H5E5	Nonsense_Mutation	SNP	ENST00000445632.2	37	c.991C>T	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	47	13.881331	0.99768	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.69	5.69	0.88448	.	0.208392	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0404	17.2949	0.87168	0.0:1.0:0.0:0.0	.	.	.	.	X	506;331;596;331	.	.	Q	+	1	0	CCDC81	85808712	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.566000	0.45948	2.685000	0.91497	0.555000	0.69702	CAG		0.517	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	0	NM_021827		11:86131064
ZEB1	6935	broad.mit.edu	37	10	31810814	31810814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:31810814C>T	ENST00000320985.10	+	7	2661	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	ZEB1_ENST00000446923.2_Missense_Mutation_p.P835S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	851					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACGGTCAGCCCTGCAGTCCA	0.463																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2		NA																	0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2503-2505)Cct>Tct		zinc finger E-box binding homeobox 1							83.0	83.0	83.0					10																	31810814		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810814C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2551C>T	10.37:g.31810814C>T	ENSP00000319248:p.Pro851Ser	True	False		Somatic	0				ZEB1_ENST00000320985.10_Missense_Mutation_p.P851S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S	p.P835S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina HiSeq	Phase_I	P37275	ZEB1_HUMAN			7	2894	+		Prostate(175;0.0156)	851					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2503C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067296	0.36470	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.13778	2.86;2.57;2.59;2.56;2.6	5.68	4.78	0.61160	.	0.000000	0.56097	D	0.000028	T	0.28267	0.0698	L	0.47716	1.5	0.80722	D	1	B;D;D;P;D;B;D;P	0.89917	0.328;1.0;1.0;0.615;1.0;0.04;1.0;0.615	B;D;D;B;D;B;D;B	0.87578	0.076;0.998;0.996;0.158;0.996;0.034;0.996;0.158	T	0.03566	-1.1024	10	0.15499	T	0.54	-7.6384	15.0713	0.72040	0.0:0.9318:0.0:0.0682	.	784;851;835;851;851;831;852;851	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	S	633;851;852;846;784;851;831;742;835	ENSP00000444282:P633S;ENSP00000354487:P852S;ENSP00000444891:P784S;ENSP00000319248:P851S;ENSP00000391612:P835S	ENSP00000319248:P851S	P	+	1	0	ZEB1	31850820	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.779000	0.55379	1.534000	0.49203	0.650000	0.86243	CCT		0.463	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	0	NM_030751		10:31810814
E2F3	1871	broad.mit.edu	37	6	20490617	20490617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:20490617G>A	ENST00000346618.3	+	7	1420	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	452	Transactivation. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CGATGCTTACGATTTGGAAAA	0.468																																						ENST00000346618.3		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(1354-1356)Gat>Aat		E2F transcription factor 3							123.0	120.0	121.0					6																	20490617		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20490617G>A	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1354G>A	6.37:g.20490617G>A	ENSP00000262904:p.Asp452Asn	False	False		Somatic	0				E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	p.D452N	NM_001949.4	NP_001940.1	WXS	Illumina HiSeq	Phase_I	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		7	1420	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		452			Transactivation (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.1354G>A	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.470974	0.84533	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	T;T	0.10288	2.89;3.01	5.79	5.79	0.91817	.	0.046857	0.85682	D	0.000000	T	0.21841	0.0526	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	P	0.57911	0.829	T	0.00379	-1.1777	10	0.66056	D	0.02	.	20.0407	0.97588	0.0:0.0:1.0:0.0	.	452	O00716	E2F3_HUMAN	N	115;452;321	ENSP00000262904:D452N;ENSP00000443418:D321N	ENSP00000262904:D452N	D	+	1	0	E2F3	20598596	1.000000	0.71417	0.941000	0.38009	0.685000	0.39939	9.476000	0.97823	2.746000	0.94184	0.561000	0.74099	GAT		0.468	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1	0			6:20490617
DNAH17	8632	broad.mit.edu	37	17	76571032	76571032	+	Silent	SNP	G	G	A	rs190167225	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76571032G>A	ENST00000585328.1	-	2	232	c.108C>T	c.(106-108)aaC>aaT	p.N36N	DNAH17_ENST00000389840.5_Silent_p.N36N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	36	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGGCCACGTTCTCCTCGG	0.587													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17375	0.0		0.002	False		,,,				2504	0.0					ENST00000389840.5		NA																	0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(106-108)aaC>aaT		dynein, axonemal, heavy chain 17		G		0,4168		0,0,2084	57.0	61.0	59.0		108	2.6	0.8	17		59	2,8426		0,2,4212	no	coding-synonymous	DNAH17	NM_173628.3		0,2,6296	AA,AG,GG		0.0237,0.0,0.0159		36/4463	76571032	2,12594	2084	4214	6298	SO:0001819	synonymous_variant	8632							g.chr17:76571032G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.108C>T	17.37:g.76571032G>A		False	False		Somatic	0				DNAH17_ENST00000585328.1_Silent_p.N36N	p.N36N			WXS	Illumina HiSeq	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	232	-			NA					O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.108C>T																																																																																					0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	0	NM_173628		17:76571032
SLC22A11	55867	broad.mit.edu	37	11	64329841	64329841	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:64329841T>A	ENST00000301891.4	+	4	1129	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	252					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GCCTTTGCCCTGCGGGACTGG	0.627																																						ENST00000301891.4		NA																	0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(754-756)cTg>cAg		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						74.0	80.0	78.0					11																	64329841		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329841T>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.755T>A	11.37:g.64329841T>A	ENSP00000301891:p.Leu252Gln	True	False		Somatic	0				SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q	p.L252Q	NM_018484.2	NP_060954.1	WXS	Illumina HiSeq	Phase_I	Q9NSA0	S22AB_HUMAN			4	1129	+			252					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.755T>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	18.76	3.692873	0.68271	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.68181	-0.31;-0.31;-0.31	3.58	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.173586	0.38326	U	0.001730	T	0.81772	0.4893	M	0.86502	2.82	0.38636	D	0.951485	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;D;D	0.87578	0.969;0.998;0.98;0.98	D	0.85294	0.1069	10	0.87932	D	0	.	10.2369	0.43288	0.0:0.0:0.0:1.0	.	252;46;252;252	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	Q	252	ENSP00000301891:L252Q;ENSP00000366809:L252Q;ENSP00000366804:L252Q	ENSP00000301891:L252Q	L	+	2	0	SLC22A11	64086417	0.996000	0.38824	1.000000	0.80357	0.752000	0.42762	6.548000	0.73896	1.512000	0.48834	0.454000	0.30748	CTG		0.627	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	0	NM_018484		11:64329841
ASB1	51665	broad.mit.edu	37	2	239342283	239342283	+	Nonsense_Mutation	SNP	C	C	G	rs140110697		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:239342283C>G	ENST00000264607.4	+	2	385	c.138C>G	c.(136-138)taC>taG	p.Y46*	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	46					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		ATGCAGCTTACGTCGGGGACC	0.597																																						ENST00000264607.4		NA																	0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(136-138)taC>taG		ankyrin repeat and SOCS box containing 1							66.0	61.0	63.0					2																	239342283		2203	4300	6503	SO:0001587	stop_gained	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239342283C>G	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.138C>G	2.37:g.239342283C>G	ENSP00000264607:p.Tyr46*	False	False		Somatic	0				ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*|ASB1_ENST00000469885.1_3'UTR	p.Y46*	NM_001040445.1	NP_001035535.1	WXS	Illumina HiSeq	Phase_I	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	2	385	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	46					A6NL50|Q4ZG29|Q9ULS4	Nonsense_Mutation	SNP	ENST00000264607.4	37	c.138C>G	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436599	0.96168	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	.	.	.	5.49	0.519	0.17035	.	0.253973	0.41823	D	0.000807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4737	0.38858	0.0:0.574:0.0:0.426	.	.	.	.	X	46	.	ENSP00000264607:Y46X	Y	+	3	2	ASB1	239007022	0.656000	0.27385	0.998000	0.56505	0.974000	0.67602	-0.326000	0.07965	0.037000	0.15575	-0.258000	0.10820	TAC		0.597	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	0	NM_001040445		2:239342283
FAT2	2196	broad.mit.edu	37	5	150923942	150923942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:150923942G>T	ENST00000261800.5	-	9	6758	c.6746C>A	c.(6745-6747)gCt>gAt	p.A2249D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2249	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCCCAGAGCTGTATCCGT	0.473																																						ENST00000261800.5		NA																	0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6745-6747)gCt>gAt		FAT atypical cadherin 2							101.0	102.0	102.0					5																	150923942		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923942G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6746C>A	5.37:g.150923942G>T	ENSP00000261800:p.Ala2249Asp	False	False		Somatic	0					p.A2249D	NM_001447.2	NP_001438.1	WXS	Illumina HiSeq	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6758	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2249			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6746C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261414	0.59431	.	.	ENSG00000086570	ENST00000261800	T	0.60171	0.21	5.68	5.68	0.88126	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000003	T	0.65080	0.2657	L	0.42008	1.315	0.47245	D	0.999369	D	0.89917	1.0	D	0.77557	0.99	T	0.57365	-0.7824	10	0.12103	T	0.63	.	13.0521	0.58960	0.0733:0.0:0.9267:0.0	.	2249	Q9NYQ8	FAT2_HUMAN	D	2249	ENSP00000261800:A2249D	ENSP00000261800:A2249D	A	-	2	0	FAT2	150904135	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.043000	0.71004	2.683000	0.91414	0.561000	0.74099	GCT		0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	NM_001447		5:150923942
FMO1	2326	broad.mit.edu	37	1	171254564	171254564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:171254564C>T	ENST00000354841.4	+	8	1611	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	494					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CCAGTGGGACCGAACATTCAA	0.478																																						ENST00000354841.4		NA																	0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(1480-1482)Cga>Tga		flavin containing monooxygenase 1							101.0	96.0	98.0					1																	171254564		2203	4300	6503	SO:0001587	stop_gained	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171254564C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1480C>T	1.37:g.171254564C>T	ENSP00000346901:p.Arg494*	False	False		Somatic	0				FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR	p.R494*	NM_001282692.1	NP_001269621.1	WXS	Illumina HiSeq	Phase_I	Q01740	FMO1_HUMAN			8	1611	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		494					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Nonsense_Mutation	SNP	ENST00000354841.4	37	c.1480C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	37	6.316156	0.97467	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	5.61	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1246	9.8702	0.41168	0.139:0.7877:0.0:0.0732	.	.	.	.	X	494;431;494	.	ENSP00000346901:R494X	R	+	1	2	FMO1	169521188	0.653000	0.27358	0.971000	0.41717	0.929000	0.56500	1.341000	0.33907	1.372000	0.46190	-0.259000	0.10710	CGA		0.478	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	0	NM_002021		1:171254564
DNAJC13	23317	broad.mit.edu	37	3	132209833	132209833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:132209833G>T	ENST00000260818.6	+	32	3809	c.3561G>T	c.(3559-3561)aaG>aaT	p.K1187N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1187					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACCTGAAAAGTTTTCTGAGA	0.323																																						ENST00000260818.6		NA																	0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3559-3561)aaG>aaT		DnaJ (Hsp40) homolog, subfamily C, member 13							40.0	46.0	44.0					3																	132209833		2200	4296	6496	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132209833G>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3561G>T	3.37:g.132209833G>T	ENSP00000260818:p.Lys1187Asn	True	False		Somatic	0					p.K1187N	NM_015268.3	NP_056083.3	WXS	Illumina HiSeq	Phase_I	O75165	DJC13_HUMAN			32	3809	+			1187					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3561G>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367442	0.61513	.	.	ENSG00000138246	ENST00000260818	T	0.19669	2.13	5.13	3.06	0.35304	Armadillo-type fold (1);	0.072208	0.56097	D	0.000039	T	0.27832	0.0685	M	0.72576	2.205	0.50467	D	0.999872	P	0.52577	0.954	P	0.47981	0.563	T	0.03829	-1.1000	10	0.46703	T	0.11	.	8.6112	0.33804	0.2823:0.0:0.7177:0.0	.	1187	O75165	DJC13_HUMAN	N	1187	ENSP00000260818:K1187N	ENSP00000260818:K1187N	K	+	3	2	DNAJC13	133692523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.013000	0.29937	1.166000	0.42689	0.591000	0.81541	AAG		0.323	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	0	NM_015268		3:132209833
CACNG3	10368	broad.mit.edu	37	16	24372859	24372859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:24372859G>A	ENST00000005284.3	+	4	1825	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	208					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGCAGTTACGAGCCAAATCC	0.488																																						ENST00000005284.3		NA																	0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(622-624)cGa>cAa		calcium channel, voltage-dependent, gamma subunit 3							121.0	113.0	116.0					16																	24372859		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372859G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.623G>A	16.37:g.24372859G>A	ENSP00000005284:p.Arg208Gln	False	False		Somatic	0					p.R208Q	NM_006539.3	NP_006530.1	WXS	Illumina HiSeq	Phase_I	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1825	+			208						Missense_Mutation	SNP	ENST00000005284.3	37	c.623G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189450	0.94923	.	.	ENSG00000006116	ENST00000005284	T	0.81163	-1.46	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87820	0.2637	10	0.32370	T	0.25	-7.4112	17.8423	0.88718	0.0:0.0:1.0:0.0	.	208	O60359	CCG3_HUMAN	Q	208	ENSP00000005284:R208Q	ENSP00000005284:R208Q	R	+	2	0	CACNG3	24280360	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	CGA		0.488	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	0	NM_006539		16:24372859
CXorf21	80231	broad.mit.edu	37	X	30578132	30578132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:30578132G>T	ENST00000378962.3	-	3	663	c.341C>A	c.(340-342)cCa>cAa	p.P114Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	114										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCAAGAAGATGGAACCAAGTA	0.443																																						ENST00000378962.3		NA																	0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(340-342)cCa>cAa		chromosome X open reading frame 21							97.0	98.0	98.0					X																	30578132		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30578132G>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.341C>A	X.37:g.30578132G>T	ENSP00000368245:p.Pro114Gln	False	False		Somatic	0					p.P114Q	NM_025159.2	NP_079435.1	WXS	Illumina HiSeq	Phase_I	Q9HAI6	CX021_HUMAN			3	663	-			114						Missense_Mutation	SNP	ENST00000378962.3	37	c.341C>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515532	0.64634	.	.	ENSG00000120280	ENST00000378962	.	.	.	4.94	4.05	0.47172	.	0.000000	0.64402	D	0.000005	T	0.75221	0.3820	M	0.66939	2.045	0.52501	D	0.999955	D	0.89917	1.0	D	0.81914	0.995	T	0.76934	-0.2775	9	0.54805	T	0.06	-14.154	12.9145	0.58199	0.0824:0.0:0.9176:0.0	.	114	Q9HAI6	CX021_HUMAN	Q	114	.	ENSP00000368245:P114Q	P	-	2	0	CXorf21	30488053	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.264000	0.78432	2.279000	0.76181	0.422000	0.28245	CCA		0.443	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	0	NM_025159		X:30578132
SCN1A	6323	broad.mit.edu	37	2	166848439	166848439	+	Silent	SNP	G	G	A	rs121918763		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:166848439G>A	ENST00000303395.4	-	26	5345	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.I1782I|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1754I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1782			I -> M (in EIEE6; dbSNP:rs121918763). {ECO:0000269|PubMed:20522430}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGATGACCGCGATGTACATGT	0.443																																						ENST00000423058.2		NA																	0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5344-5346)atC>atT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						124.0	123.0	123.0					2																	166848439		2203	4297	6500	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848439G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5346C>T	2.37:g.166848439G>A		False	False		Somatic	0				SCN1A_ENST00000409050.1_Silent_p.I1754I|SCN1A_ENST00000303395.4_Silent_p.I1782I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1771I|AC010127.3_ENST00000597623.1_RNA	p.I1782I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina HiSeq	Phase_I	P35498	SCN1A_HUMAN			26	5363	-			1782		I -> M (in SMEI; dbSNP:rs121918763).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5346C>T	CCDS54413.1																																																																																				0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	0	NM_006920		2:166848439
FLNC	2318	broad.mit.edu	37	7	128478769	128478769	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:128478769A>T	ENST00000325888.8	+	8	1584	c.1323A>T	c.(1321-1323)agA>agT	p.R441S	FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	441					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCACATACAGACCTGCCATGG	0.637																																						ENST00000325888.8		NA																	0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1321-1323)agA>agT		filamin C, gamma							87.0	97.0	94.0					7																	128478769		2127	4223	6350	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478769A>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1323A>T	7.37:g.128478769A>T	ENSP00000327145:p.Arg441Ser	False	False		Somatic	0				FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	p.R441S	NM_001458.4	NP_001449.3	WXS	Illumina HiSeq	Phase_I	Q14315	FLNC_HUMAN			8	1584	+			441					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1323A>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522233	0.44866	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.63096	-0.02;-0.02	4.9	4.01	0.46588	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.483889	0.21640	N	0.071355	T	0.51924	0.1703	L	0.48642	1.525	0.43164	D	0.994953	B;B	0.21225	0.053;0.039	B;B	0.29440	0.038;0.102	T	0.52578	-0.8557	10	0.48119	T	0.1	.	4.0045	0.09595	0.1951:0.0:0.6163:0.1886	.	441;441	Q14315-2;Q14315	.;FLNC_HUMAN	S	441	ENSP00000327145:R441S;ENSP00000344002:R441S	ENSP00000327145:R441S	R	+	3	2	FLNC	128266005	0.385000	0.25172	0.997000	0.53966	0.975000	0.68041	-0.139000	0.10358	1.257000	0.44085	-0.366000	0.07423	AGA		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	0			7:128478769
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(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	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		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.chr12:25398285C>G	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.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	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	225	-	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.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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		12:25398285
PDS5B	23047	broad.mit.edu	37	13	33253063	33253063	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33253063A>T	ENST00000315596.10	+	10	1240	c.1054A>T	c.(1054-1056)Aca>Tca	p.T352S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	352					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGACTTAACAGGTACTAT	0.368																																						ENST00000315596.10		NA																	0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(1054-1056)Aca>Tca		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							98.0	85.0	89.0					13																	33253063		1833	4087	5920	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33253063A>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1054A>T	13.37:g.33253063A>T	ENSP00000313851:p.Thr352Ser	False	False		Somatic	0					p.T352S	NM_015032.3	NP_055847.1	WXS	Illumina HiSeq	Phase_I	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	10	1240	+		Lung SC(185;0.0367)	352					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1054A>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770135	0.90108	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	L	0.54323	1.7	0.80722	D	1	P;B	0.45827	0.867;0.057	P;B	0.53062	0.717;0.058	T	0.67166	-0.5739	10	0.18276	T	0.48	-0.3507	15.5881	0.76502	1.0:0.0:0.0:0.0	.	352;352	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	S	352	ENSP00000313851:T352S	ENSP00000313851:T352S	T	+	1	0	PDS5B	32151063	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.191000	0.94940	2.090000	0.63153	0.459000	0.35465	ACA		0.368	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	0	NM_015032		13:33253063
KCNT1	57582	broad.mit.edu	37	9	138675926	138675926	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:138675926C>T	ENST00000263604.3	+	25	2841	c.2841C>T	c.(2839-2841)gcC>gcT	p.A947A	KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000298480.5_Silent_p.A966A|KCNT1_ENST00000491806.2_Silent_p.A933A			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	947					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGTTCGCCGCCGGCCGCGTCT	0.667																																						ENST00000298480.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2896-2898)gcC>gcT		potassium channel, subfamily T, member 1							73.0	64.0	67.0					9																	138675926		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138675926C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2841C>T	9.37:g.138675926C>T		True	False		Somatic	0				KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000263604.3_Silent_p.A947A	p.A966A			WXS	Illumina HiSeq	Phase_I	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	25	2972	+		Myeloproliferative disorder(178;0.0821)	966					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2898C>T																																																																																					0.667	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_020822		9:138675926
HECW2	57520	broad.mit.edu	37	2	197208385	197208385	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:197208385C>G	ENST00000260983.3	-	3	578	c.396G>C	c.(394-396)atG>atC	p.M132I	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	132					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACTTACGTTCCATGAAATAGG	0.358																																						ENST00000260983.3		NA																	0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(394-396)atG>atC		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							166.0	183.0	177.0					2																	197208385		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197208385C>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.396G>C	2.37:g.197208385C>G	ENSP00000260983:p.Met132Ile	False	False		Somatic	0				HECW2_ENST00000409111.1_5'UTR	p.M132I	NM_020760.1	NP_065811.1	WXS	Illumina HiSeq	Phase_I	Q9P2P5	HECW2_HUMAN			3	578	-			NA					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.396G>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953035	0.53293	.	.	ENSG00000138411	ENST00000260983;ENST00000452031	T	0.31247	1.5	6.06	6.06	0.98353	.	0.046101	0.85682	D	0.000000	T	0.31358	0.0794	L	0.54323	1.7	0.50171	D	0.99985	B	0.12013	0.005	B	0.15484	0.013	T	0.02533	-1.1145	10	0.37606	T	0.19	.	14.2555	0.66048	0.1491:0.8509:0.0:0.0	.	132	Q9P2P5	HECW2_HUMAN	I	132	ENSP00000260983:M132I	ENSP00000260983:M132I	M	-	3	0	HECW2	196916630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.483000	0.60264	2.882000	0.98803	0.655000	0.94253	ATG		0.358	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	0	NM_020760		2:197208385
TCEAL5	340543	broad.mit.edu	37	X	102529240	102529240	+	Silent	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:102529240T>A	ENST00000372680.1	-	3	546	c.252A>T	c.(250-252)ccA>ccT	p.P84P		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CCTCACTTTGTGGCTTGTCCT	0.587																																						ENST00000372680.1		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(250-252)ccA>ccT		transcription elongation factor A (SII)-like 5							144.0	117.0	126.0					X																	102529240		2203	4300	6503	SO:0001819	synonymous_variant	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102529240T>A		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.252A>T	X.37:g.102529240T>A		False	False		Somatic	0					p.P84P	NM_001012979.2	NP_001012997.1	WXS	Illumina HiSeq	Phase_I	Q5H9L2	TCAL5_HUMAN			3	546	-			84					A2RUJ4	Silent	SNP	ENST00000372680.1	37	c.252A>T	CCDS35356.1																																																																																				0.587	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	0	XM_291334		X:102529240
SEMA6B	10501	broad.mit.edu	37	19	4555520	4555520	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:4555520G>A	ENST00000586582.1	-	7	838	c.528C>T	c.(526-528)taC>taT	p.Y176Y	SEMA6B_ENST00000586965.1_Silent_p.Y176Y|SEMA6B_ENST00000301293.3_Silent_p.Y176Y	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	176	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGGGGTCGTACGGGCAGC	0.602																																						ENST00000586582.1		NA																	0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(526-528)taC>taT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							112.0	101.0	105.0					19																	4555520		2203	4300	6503	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4555520G>A	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.528C>T	19.37:g.4555520G>A		False	False		Somatic	0				SEMA6B_ENST00000301293.3_Silent_p.Y176Y|SEMA6B_ENST00000586965.1_Silent_p.Y176Y	p.Y176Y	NM_032108.3	NP_115484.2	WXS	Illumina HiSeq	Phase_I	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	7	838	-		Hepatocellular(1079;0.137)	176			Sema.		A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.528C>T	CCDS12131.1																																																																																				0.602	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	0	NM_032108		19:4555520
CCT8L2	150160	broad.mit.edu	37	22	17073061	17073061	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:17073061A>T	ENST00000359963.3	-	1	639	c.380T>A	c.(379-381)cTg>cAg	p.L127Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	127					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCGAGGCAGGCCAGCCTT	0.642																																						ENST00000359963.3		NA																	0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(379-381)cTg>cAg		chaperonin containing TCP1, subunit 8 (theta)-like 2							47.0	40.0	42.0					22																	17073061		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073061A>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.380T>A	22.37:g.17073061A>T	ENSP00000353048:p.Leu127Gln	True	False		Somatic	0					p.L127Q	NM_014406.4	NP_055221.1	WXS	Illumina HiSeq	Phase_I	Q96SF2	TCPQM_HUMAN			1	639	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	127					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.380T>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	11.60	1.688445	0.29962	.	.	ENSG00000198445	ENST00000359963	T	0.80909	-1.43	2.0	2.0	0.26442	.	0.000000	0.29073	U	0.013223	D	0.86969	0.6061	M	0.80982	2.52	0.34168	D	0.669424	D	0.89917	1.0	D	0.83275	0.996	D	0.87908	0.2695	10	0.87932	D	0	-12.4381	5.9541	0.19263	1.0:0.0:0.0:0.0	.	127	Q96SF2	TCPQM_HUMAN	Q	127	ENSP00000353048:L127Q	ENSP00000353048:L127Q	L	-	2	0	CCT8L2	15453061	1.000000	0.71417	0.739000	0.30968	0.152000	0.21847	3.227000	0.51262	0.930000	0.37217	0.324000	0.21423	CTG		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1	0			22:17073061
OR13F1	138805	broad.mit.edu	37	9	107267140	107267140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:107267140G>A	ENST00000334726.2	+	1	686	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTTAATCATGCTGGTGATCA	0.433																																						ENST00000334726.2		NA																	0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(595-597)atG>atA		olfactory receptor, family 13, subfamily F, member 1							341.0	304.0	317.0					9																	107267140		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267140G>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.597G>A	9.37:g.107267140G>A	ENSP00000334452:p.Met199Ile	False	False		Somatic	0					p.M199I	NM_001004485.1	NP_001004485.1	WXS	Illumina HiSeq	Phase_I	Q8NGS4	O13F1_HUMAN			1	686	+			199					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.597G>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918213	0.17982	.	.	ENSG00000186881	ENST00000334726	T	0.00048	8.82	4.29	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.091249	0.47093	N	0.000241	T	0.00073	0.0002	N	0.05608	-0.01	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.06391	-1.0829	10	0.30078	T	0.28	.	5.7443	0.18112	0.3867:0.0:0.6133:0.0	.	199	Q8NGS4	O13F1_HUMAN	I	199	ENSP00000334452:M199I	ENSP00000334452:M199I	M	+	3	0	OR13F1	106306961	0.006000	0.16342	0.148000	0.22405	0.993000	0.82548	0.163000	0.16520	0.572000	0.29383	0.650000	0.86243	ATG		0.433	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1	0			9:107267140
U2SURP	23350	broad.mit.edu	37	3	142741878	142741878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142741878C>T	ENST00000473835.2	+	12	1292	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	U2SURP_ENST00000397933.2_Missense_Mutation_p.H7Y|U2SURP_ENST00000493598.2_Missense_Mutation_p.P400L	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	401	Pro-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATGTTACCGCCACCTAAAAAC	0.403																																						ENST00000397933.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(19-21)Cac>Tac		U2 snRNP-associated SURP domain containing							32.0	30.0	30.0					3																	142741878		1843	4093	5936	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741878C>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1202C>T	3.37:g.142741878C>T	ENSP00000418563:p.Pro401Leu	False	False		Somatic	0				U2SURP_ENST00000473835.2_Missense_Mutation_p.P401L|U2SURP_ENST00000493598.2_Missense_Mutation_p.P400L	p.H7Y			WXS	Illumina HiSeq	Phase_I	O15042	SR140_HUMAN			12	1301	+			0					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.19C>T	CCDS46928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.639128|1.639128	0.29157|0.29157	.|.	.|.	ENSG00000163714|ENSG00000163714	ENST00000397933|ENST00000473835;ENST00000319822;ENST00000493598	.|T;T	.|0.14144	.|2.53;2.56	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.046853	.|0.85682	.|D	.|0.000000	T|T	0.14917|0.14917	0.0360|0.0360	L|L	0.48642|0.48642	1.525|1.525	0.37451|0.37451	D|D	0.914836|0.914836	B|B;B;B	0.15473|0.10296	0.013|0.003;0.002;0.001	B|B;B;B	0.17098|0.10450	0.017|0.002;0.005;0.002	T|T	0.03148|0.03148	-1.1067|-1.1067	8|10	0.87932|0.45353	D|T	0|0.12	-11.0642|-11.0642	13.5241|13.5241	0.61584|0.61584	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	7|401;400;401	O15042-3|B4DK81;O15042-2;O15042	.|.;.;SR140_HUMAN	Y|L	7|401;401;400	.|ENSP00000418563:P401L;ENSP00000422011:P400L	ENSP00000381027:H7Y|ENSP00000322376:P401L	H|P	+|+	1|2	0|0	U2SURP|U2SURP	144224568|144224568	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	5.600000|5.600000	0.67599|0.67599	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.403	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	0	NM_001080415		3:142741878
MROH9	80133	broad.mit.edu	37	1	170967516	170967516	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967516G>T	ENST00000367758.3	+	15	1796	c.1697G>T	c.(1696-1698)gGt>gTt	p.G566V	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	566																	CTGAATGTTGGTTCTTACCAA	0.408																																						ENST00000367758.3		NA																	0					NA						c.(1696-1698)gGt>gTt		maestro heat-like repeat family member 9							130.0	112.0	117.0					1																	170967516		1836	4093	5929	SO:0001583	missense	80133							g.chr1:170967516G>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1697G>T	1.37:g.170967516G>T	ENSP00000356732:p.Gly566Val	False	False		Somatic	0				MROH9_ENST00000367759.4_Intron	p.G566V	NM_025063.2	NP_079339.2	WXS	Illumina HiSeq	Phase_I					15	1796	+			NA					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1697G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	4.954	0.177286	0.09443	.	.	ENSG00000117501	ENST00000367758	T	0.18657	2.2	3.5	-5.73	0.02398	.	0.828757	0.10249	N	0.697367	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	B	0.33042	0.157	T	0.35549	-0.9784	10	0.87932	D	0	0.8303	0.4664	0.00525	0.2894:0.1345:0.3038:0.2723	.	566	Q5TGP6	CA129_HUMAN	V	566	ENSP00000356732:G566V	ENSP00000356732:G566V	G	+	2	0	C1orf129	169234140	0.050000	0.20438	0.000000	0.03702	0.015000	0.08874	-0.045000	0.12003	-1.222000	0.02587	0.446000	0.29264	GGT		0.408	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	0	NM_025063		1:170967516
LRP1B	53353	broad.mit.edu	37	2	141641448	141641448	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:141641448T>A	ENST00000389484.3	-	25	5078	c.4107A>T	c.(4105-4107)agA>agT	p.R1369S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1369					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTAGTGTAGTTCTTAGGGAGC	0.458										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4105-4107)agA>agT		low density lipoprotein receptor-related protein 1B							172.0	167.0	169.0					2																	141641448		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641448T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4107A>T	2.37:g.141641448T>A	ENSP00000374135:p.Arg1369Ser	False	False	TSP Lung(27;0.18)	Somatic	0					p.R1369S	NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	25	5078	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1369					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4107A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782993	0.49891	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97598	-4.45;-4.45	5.64	1.83	0.25207	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	M	0.92691	3.335	0.46725	D	0.999171	P;D	0.89917	0.771;1.0	P;D	0.87578	0.531;0.998	D	0.96886	0.9649	10	0.66056	D	0.02	.	6.582	0.22600	0.0:0.249:0.119:0.632	.	552;1369	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	S	1369;1307;514	ENSP00000374135:R1369S;ENSP00000413239:R514S	ENSP00000374135:R1369S	R	-	3	2	LRP1B	141357918	0.999000	0.42202	0.982000	0.44146	0.896000	0.52359	0.411000	0.21115	0.125000	0.18397	0.533000	0.62120	AGA		0.458	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557		2:141641448
FSTL4	23105	broad.mit.edu	37	5	132535363	132535363	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:132535363G>A	ENST00000265342.7	-	16	2202	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	651						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCGCCCAGGTGGGTGTGTG	0.622																																						ENST00000265342.7		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1951-1953)caC>caT		follistatin-like 4							40.0	42.0	42.0					5																	132535363		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132535363G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1953C>T	5.37:g.132535363G>A		True	False		Somatic	0				CTB-49A3.2_ENST00000509051.1_RNA	p.H651H	NM_015082.1	NP_055897.1	WXS	Illumina HiSeq	Phase_I	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2202	-		all_cancers(142;0.244)	651					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1953C>T	CCDS34238.1																																																																																				0.622	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	0	XM_048786		5:132535363
PCDHA4	56144	broad.mit.edu	37	5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.662																																						ENST00000530339.1		NA																	0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1507-1509)gCg>gTg									55.0	56.0	56.0					5																	140188280		2203	4300	6503	SO:0001583	missense	0							g.chr5:140188280C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1508C>T	5.37:g.140188280C>T	ENSP00000435300:p.Ala503Val	True	False		Somatic	0				PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA3_ENST00000522353.2_Intron	p.A503V	NM_018907.2	NP_061730.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+			NA					O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1508C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.350279	0.41599	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54071	0.65;0.59;0.62	4.18	1.28	0.21552	Cadherin (4);Cadherin-like (1);	0.515141	0.14366	U	0.324099	T	0.47097	0.1427	L	0.28344	0.845	0.19300	N	0.999977	P;P;D	0.54047	0.902;0.937;0.964	P;P;P	0.56398	0.559;0.797;0.596	T	0.32771	-0.9894	10	0.72032	D	0.01	.	3.1704	0.06550	0.1412:0.561:0.1371:0.1606	.	503;503;503	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	503	ENSP00000423470:A503V;ENSP00000349344:A503V;ENSP00000435300:A503V	ENSP00000349344:A503V	A	+	2	0	PCDHA4	140168464	0.000000	0.05858	0.562000	0.28370	0.709000	0.40893	-0.289000	0.08365	0.030000	0.15379	0.580000	0.79431	GCG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	0	NM_018907		5:140188280
OR12D2	26529	broad.mit.edu	37	6	29365221	29365221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:29365221C>A	ENST00000383555.2	+	1	806	c.745C>A	c.(745-747)Ctt>Att	p.L249I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L249V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGTAGTTATTCTTTTCTATGC	0.443																																						ENST00000383555.2		NA																	1	Substitution - Missense(1)	p.L249V(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(745-747)Ctt>Att		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							218.0	214.0	216.0					6																	29365221		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365221C>A		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.745C>A	6.37:g.29365221C>A	ENSP00000373047:p.Leu249Ile	True	False		Somatic	0				OR5V1_ENST00000377154.1_Intron	p.L249I	NM_013936.3	NP_039224.2	WXS	Illumina HiSeq	Phase_I	P58182	O12D2_HUMAN			1	806	+			249					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.745C>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306945	0.23821	.	.	ENSG00000168787	ENST00000383555	T	0.00256	8.42	3.94	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000216	T	0.00073	0.0002	L	0.37630	1.12	0.09310	N	1	B	0.33755	0.424	B	0.43916	0.436	T	0.07693	-1.0759	10	0.22109	T	0.4	.	6.48	0.22057	0.0:0.5558:0.275:0.1692	.	249	P58182	O12D2_HUMAN	I	249	ENSP00000373047:L249I	ENSP00000373047:L249I	L	+	1	0	OR12D2	29473200	0.000000	0.05858	0.002000	0.10522	0.350000	0.29205	-0.686000	0.05161	0.314000	0.23086	0.205000	0.17691	CTT		0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2	0			6:29365221
AGBL1	123624	broad.mit.edu	37	15	86838550	86838550	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:86838550T>C	ENST00000441037.2	+	16	2242	c.2147T>C	c.(2146-2148)cTc>cCc	p.L716P	AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P|AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1-AS1_ENST00000564487.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	716					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAGATGTTCTCTGCCAGACG	0.483																																						ENST00000441037.2		NA																	0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2146-2148)cTc>cCc		ATP/GTP binding protein-like 1							84.0	83.0	83.0					15																	86838550		1968	4159	6127	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838550T>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2147T>C	15.37:g.86838550T>C	ENSP00000413001:p.Leu716Pro	False	False		Somatic	0				AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P|AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P	p.L716P	NM_152336.2	NP_689549.2	WXS	Illumina HiSeq	Phase_I	Q96MI9	CBPC4_HUMAN			16	2242	+			716					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2147T>C	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040625	0.75732	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.13307	2.6;2.6	5.42	5.42	0.78866	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000003	T	0.50701	0.1631	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.66500	-0.5908	10	0.87932	D	0	-23.9349	13.6996	0.62599	0.0:0.0:0.0:1.0	.	415;447;716	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	P	745;716;447	ENSP00000397173:L716P;ENSP00000373949:L447P	ENSP00000373949:L447P	L	+	2	0	AGBL1	84639554	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	6.505000	0.73708	2.170000	0.68504	0.528000	0.53228	CTC		0.483	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	0	NM_152336		15:86838550
OR10A6	390093	broad.mit.edu	37	11	7949776	7949776	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:7949776A>G	ENST00000309838.2	-	1	433	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAAATATAATTAATTTCAT	0.338																																						ENST00000309838.2		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(433-435)aTt>aCt		olfactory receptor, family 10, subfamily A, member 6							37.0	43.0	41.0					11																	7949776		2187	4292	6479	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949776A>G	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.434T>C	11.37:g.7949776A>G	ENSP00000312470:p.Ile145Thr	True	False		Somatic	0					p.I145T	NM_001004461.1	NP_001004461.1	WXS	Illumina HiSeq	Phase_I	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	433	-			145					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.434T>C	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	A	1.813	-0.474282	0.04414	.	.	ENSG00000175393	ENST00000309838	T	0.43688	0.94	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.614618	0.13200	N	0.406025	T	0.30039	0.0752	N	0.16862	0.45	0.09310	N	1	B	0.22080	0.064	B	0.23852	0.049	T	0.24225	-1.0166	10	0.62326	D	0.03	.	11.9092	0.52729	1.0:0.0:0.0:0.0	.	145	Q8NH74	O10A6_HUMAN	T	145	ENSP00000312470:I145T	ENSP00000312470:I145T	I	-	2	0	OR10A6	7906352	0.000000	0.05858	0.154000	0.22540	0.014000	0.08584	1.296000	0.33389	1.983000	0.57843	0.533000	0.62120	ATT		0.338	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	0	NM_001004461		11:7949776
PCNXL2	80003	broad.mit.edu	37	1	233394271	233394271	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:233394271G>C	ENST00000258229.9	-	5	1571	c.1337C>G	c.(1336-1338)cCc>cGc	p.P446R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	446						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATTGCCTTCGGGACAGGGAAC	0.572																																						ENST00000258229.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1336-1338)cCc>cGc		pecanex-like 2 (Drosophila)							77.0	82.0	80.0					1																	233394271		1967	4157	6124	SO:0001583	missense	80003					integral to membrane		g.chr1:233394271G>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1337C>G	1.37:g.233394271G>C	ENSP00000258229:p.Pro446Arg	True	False		Somatic	0				PCNXL2_ENST00000430153.1_5'UTR	p.P446R	NM_014801.3	NP_055616.3	WXS	Illumina HiSeq	Phase_I	A6NKB5	PCX2_HUMAN			5	1571	-		all_cancers(173;0.0347)|Prostate(94;0.137)	NA					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1337C>G	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439400	0.25900	.	.	ENSG00000135749	ENST00000258229	T	0.08458	3.09	4.82	4.82	0.62117	.	.	.	.	.	T	0.06462	0.0166	N	0.19112	0.55	0.23293	N	0.997962	B	0.28713	0.22	B	0.24006	0.05	T	0.33292	-0.9874	9	0.23891	T	0.37	.	13.897	0.63778	0.0:0.0:0.8472:0.1528	.	446	A6NKB5	PCX2_HUMAN	R	446	ENSP00000258229:P446R	ENSP00000258229:P446R	P	-	2	0	PCNXL2	231460894	0.205000	0.23458	0.018000	0.16275	0.005000	0.04900	2.254000	0.43214	2.484000	0.83849	0.655000	0.94253	CCC		0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	0	NM_014801		1:233394271
NTF3	4908	broad.mit.edu	37	12	5603961	5603961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:5603961G>A	ENST00000331010.6	+	1	664	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R207Q	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	194					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.R194P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TATGAAACGCGATGTAAGGAA	0.507																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3		NA																	1	Substitution - Missense(1)	p.R194P(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(619-621)cGa>cAa		neurotrophin 3							56.0	55.0	56.0					12																	5603961		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603961G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.581G>A	12.37:g.5603961G>A	ENSP00000328738:p.Arg194Gln	False	False		Somatic	0				NTF3_ENST00000331010.6_Missense_Mutation_p.R194Q|NTF3_ENST00000535299.1_Intron	p.R207Q	NM_001102654.1	NP_001096124.1	WXS	Illumina HiSeq	Phase_I	P20783	NTF3_HUMAN			2	832	+			194					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.620G>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118561	0.77323	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.68181	-0.31;-0.31	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.049532	0.64402	D	0.000001	T	0.72203	0.3431	M	0.64997	1.995	0.46564	D	0.999104	D;D	0.76494	0.999;0.999	P;P	0.48815	0.591;0.591	T	0.76664	-0.2876	10	0.87932	D	0	-29.9681	18.2818	0.90101	0.0:0.0:1.0:0.0	.	194;207	P20783;B7Z1T5	NTF3_HUMAN;.	Q	207;194	ENSP00000397297:R207Q;ENSP00000328738:R194Q	ENSP00000328738:R194Q	R	+	2	0	NTF3	5474222	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	3.780000	0.55386	2.583000	0.87209	0.650000	0.86243	CGA		0.507	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1	0			12:5603961
SPARC	6678	broad.mit.edu	37	5	151049237	151049237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:151049237C>T	ENST00000231061.4	-	6	752	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	147	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TTGCAAGGCCCGATGTAGTCC	0.572																																						ENST00000231061.4		NA																	0				central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(439-441)Ggg>Agg		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)						106.0	93.0	98.0					5																	151049237		2203	4300	6503	SO:0001583	missense	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151049237C>T		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.439G>A	5.37:g.151049237C>T	ENSP00000231061:p.Gly147Arg	True	False		Somatic	0					p.G147R	NM_003118.3	NP_003109.1	WXS	Illumina HiSeq	Phase_I	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	6	752	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	147			Kazal-like.		D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	c.439G>A	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075918	0.94000	.	.	ENSG00000113140	ENST00000231061;ENST00000538026;ENST00000521569	D;D;D	0.87650	-2.28;-2.28;-2.28	5.7	5.7	0.88788	Proteinase inhibitor I1, Kazal (2);	0.093699	0.85682	D	0.000000	D	0.95252	0.8460	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95663	0.8717	10	0.87932	D	0	-29.1188	19.8471	0.96713	0.0:1.0:0.0:0.0	.	147	P09486	SPRC_HUMAN	R	147;56;56	ENSP00000231061:G147R;ENSP00000440127:G56R;ENSP00000428119:G56R	ENSP00000231061:G147R	G	-	1	0	SPARC	151029430	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.311000	0.78958	2.688000	0.91661	0.655000	0.94253	GGG		0.572	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	0	NM_003118		5:151049237
RAB39A	54734	broad.mit.edu	37	11	107832887	107832887	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:107832887A>T	ENST00000320578.2	+	2	509	c.443A>T	c.(442-444)gAc>gTc	p.D148V		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	148					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										CTGTCAGCAGACTGTGGAATG	0.373																																						ENST00000320578.2		NA																	0					NA						c.(442-444)gAc>gTc		RAB39A, member RAS oncogene family							83.0	82.0	82.0					11																	107832887		2201	4298	6499	SO:0001583	missense	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832887A>T	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"""RAB, member RAS oncogene"""	16521	protein-coding gene	gene with protein product	"""rab-related GTP-binding protein"""		"""RAB39, member RAS oncogene family"""	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.443A>T	11.37:g.107832887A>T	ENSP00000322594:p.Asp148Val	False	False		Somatic	0					p.D148V	NM_017516.1	NP_059986.1	WXS	Illumina HiSeq	Phase_I	Q14964	RB39A_HUMAN			2	509	+			148					A8KAA4|Q8N6W2	Missense_Mutation	SNP	ENST00000320578.2	37	c.443A>T	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021180	0.35701	.	.	ENSG00000179331	ENST00000320578	T	0.77229	-1.08	4.97	3.83	0.44106	Small GTP-binding protein domain (1);	0.101127	0.42964	D	0.000638	T	0.68860	0.3047	L	0.38838	1.175	0.54753	D	0.999984	B	0.15719	0.014	B	0.21151	0.033	T	0.69705	-0.5073	10	0.87932	D	0	.	11.9655	0.53033	0.7684:0.2315:0.0:0.0	.	148	Q14964	RB39A_HUMAN	V	148	ENSP00000322594:D148V	ENSP00000322594:D148V	D	+	2	0	RAB39	107338097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.952000	0.40343	2.064000	0.61679	0.482000	0.46254	GAC		0.373	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	0	NM_017516		11:107832887
PCDHA7	56141	broad.mit.edu	37	5	140215334	140215334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140215334G>A	ENST00000525929.1	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGCGTTCGCGCAGCCCGA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1		NA																	0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1366-1368)Gcg>Acg									56.0	60.0	59.0					5																	140215334		2203	4299	6502	SO:0001583	missense	0							g.chr5:140215334G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1366G>A	5.37:g.140215334G>A	ENSP00000436426:p.Ala456Thr	False	False		Somatic	0				PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.A456T	NM_018910.2	NP_061733.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1366	+			NA					O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1366G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	1.229	-0.624705	0.03636	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01359	4.98;4.98	4.0	-1.5	0.08691	Cadherin (3);Cadherin-like (1);	0.287183	0.17581	U	0.169114	T	0.00815	0.0027	N	0.05534	-0.03	0.09310	N	1	B;B	0.25105	0.118;0.091	B;B	0.30495	0.069;0.116	T	0.45775	-0.9238	10	0.44086	T	0.13	.	1.4843	0.02444	0.2051:0.1061:0.364:0.3248	.	456;456	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	456	ENSP00000436426:A456T;ENSP00000367365:A456T	ENSP00000367365:A456T	A	+	1	0	PCDHA7	140195518	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.809000	0.04510	-0.802000	0.04421	-2.305000	0.00258	GCG		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	0	NM_018910		5:140215334
ARHGEF37	389337	broad.mit.edu	37	5	149001460	149001460	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:149001460C>T	ENST00000333677.6	+	9	1333	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	390	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGAGGAGGCCGCCCGGCACA	0.577																																						ENST00000333677.6		NA																	0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1168-1170)gcC>gcT		Rho guanine nucleotide exchange factor (GEF) 37							64.0	76.0	72.0					5																	149001460		2097	4214	6311	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149001460C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1170C>T	5.37:g.149001460C>T		False	False		Somatic	0					p.A390A	NM_001001669.2	NP_001001669.2	WXS	Illumina HiSeq	Phase_I	A1IGU5	ARH37_HUMAN			9	1333	+			390			BAR.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.1170C>T	CCDS43385.1																																																																																				0.577	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	0	NM_001001669		5:149001460
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1		NA																	9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg	False	False		Somatic	0				ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R	p.H1411R			WXS	Illumina HiSeq	Phase_I					63	4316	-			NA					C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	0	NM_001010914		2:96521777
MRPL45P2	653479	broad.mit.edu	37	17	45567651	45567651	+	RNA	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:45567651A>T	ENST00000575291.1	-	0	265									mitochondrial ribosomal protein L45 pseudogene 2																		CATAGGCATCAAATATACCAG	0.343																																						ENST00000575291.1		NA																	0					NA																																														0							g.chr17:45567651A>T			17q21.32	2010-09-29				ENSG00000228782			29716	pseudogene	pseudogene						12706105	Standard	NR_033934		Approved		uc002ilq.3				17.37:g.45567651A>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	265	-			NA						RNA	SNP	ENST00000575291.1	37			.	.	.	.	.	.	.	.	.	.	.	15.56	2.870598	0.51588	.	.	ENSG00000228782	ENST00000425159	.	.	.	2.85	2.85	0.33270	.	.	.	.	.	T	0.43567	0.1253	.	.	.	.	.	.	.	.	.	.	.	.	T	0.53034	-0.8495	4	0.34782	T	0.22	-8.6028	7.4655	0.27320	1.0:0.0:0.0:0.0	.	.	.	.	L	85	.	ENSP00000411291:F85L	F	-	3	2	AC040934.1	42922650	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	2.466000	0.45084	1.305000	0.44909	0.373000	0.22412	TTT		0.343	MRPL45P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000441112.1	0	NR_033934		17:45567651
VPS13D	55187	broad.mit.edu	37	1	12316444	12316444	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:12316444G>C	ENST00000358136.3	+	8	854	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTGGAGCCTGTGTTTGCATC	0.542																																						ENST00000358136.3		NA																	0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(724-726)Gtg>Ctg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							172.0	159.0	163.0					1																	12316444		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12316444G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.724G>C	1.37:g.12316444G>C	ENSP00000350854:p.Val242Leu	False	False		Somatic	0				VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	p.V242L	NM_015378.2	NP_056193.2	WXS	Illumina HiSeq	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	8	854	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	242						Missense_Mutation	SNP	ENST00000358136.3	37	c.724G>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748117	0.69533	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.41400	1.0;1.0	5.94	5.03	0.67393	.	0.125158	0.53938	D	0.000060	T	0.37598	0.1009	L	0.50333	1.59	0.80722	D	1	B;B	0.28350	0.208;0.132	B;B	0.30572	0.117;0.055	T	0.26744	-1.0094	10	0.54805	T	0.06	.	9.8912	0.41292	0.1488:0.0:0.8512:0.0	.	242;242	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	L	242	ENSP00000348666:V242L;ENSP00000350854:V242L	ENSP00000348666:V242L	V	+	1	0	VPS13D	12239031	1.000000	0.71417	0.972000	0.41901	0.972000	0.66771	5.297000	0.65704	2.820000	0.97059	0.650000	0.86243	GTG		0.542	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	0	NM_015378		1:12316444
SPTBN4	57731	broad.mit.edu	37	19	41009810	41009810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:41009810C>T	ENST00000352632.3	+	12	1522	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A479V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	479					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGACATTGCGGCCTACGAG	0.637																																						ENST00000352632.3		NA																	0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1435-1437)gCg>gTg		spectrin, beta, non-erythrocytic 4							45.0	44.0	44.0					19																	41009810		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009810C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1436C>T	19.37:g.41009810C>T	ENSP00000263373:p.Ala479Val	False	False		Somatic	0				SPTBN4_ENST00000338932.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A479V	p.A479V			WXS	Illumina HiSeq	Phase_I	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1522	+			479					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1436C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	c	11.95	1.792428	0.31685	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54279	0.58;0.58;0.58	4.2	4.2	0.49525	.	0.093190	0.41194	U	0.000921	T	0.41743	0.1172	L	0.39566	1.225	0.80722	D	1	P;P	0.40032	0.699;0.501	B;B	0.36719	0.231;0.054	T	0.29274	-1.0017	10	0.16896	T	0.51	.	15.4391	0.75168	0.0:1.0:0.0:0.0	.	479;479	Q9H254;Q71S06	SPTN4_HUMAN;.	V	479	ENSP00000263373:A479V;ENSP00000340345:A479V;ENSP00000340741:A479V	ENSP00000340345:A479V	A	+	2	0	SPTBN4	45701650	0.786000	0.28738	0.982000	0.44146	0.761000	0.43186	4.710000	0.61873	2.180000	0.69256	0.486000	0.48141	GCG		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0			19:41009810
NOBOX	135935	broad.mit.edu	37	7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AATCTCTCGGCGTTTATCACT	0.557																																						ENST00000467773.1		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(904-906)cGc>cAc		NOBOX oogenesis homeobox							87.0	80.0	83.0					7																	144097345		1892	4124	6016	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097345C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.905G>A	7.37:g.144097345C>T	ENSP00000419457:p.Arg302His	False	False		Somatic	0				NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	p.R302H	NM_001080413.3	NP_001073882.3	WXS	Illumina HiSeq	Phase_I	O60393	NOBOX_HUMAN			5	904	-	Melanoma(164;0.14)		302					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.905G>A		.	.	.	.	.	.	.	.	.	.	C	19.76	3.888183	0.72524	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97505	-4.41;-4.41;-4.41	5.79	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.139728	0.38778	N	0.001576	D	0.99010	0.9662	H	0.98111	4.15	0.36943	D	0.892459	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1488	10	0.87932	D	0	-29.743	12.7537	0.57321	0.0:0.9207:0.0:0.0793	.	302	O60393	NOBOX_HUMAN	H	302;302;217;91	ENSP00000419565:R302H;ENSP00000419457:R302H;ENSP00000223140:R217H	ENSP00000223140:R217H	R	-	2	0	NOBOX	143728278	1.000000	0.71417	0.745000	0.31077	0.663000	0.39108	5.277000	0.65586	1.450000	0.47717	0.650000	0.86243	CGC		0.557	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	0	XM_001134420		7:144097345
FDXACB1	91893	broad.mit.edu	37	11	111749420	111749420	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:111749420G>A	ENST00000260257.4	-	2	236	c.189C>T	c.(187-189)ttC>ttT	p.F63F	C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.F63F|C11orf1_ENST00000529270.1_5'Flank|C11orf1_ENST00000530214.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|FDXACB1_ENST00000542429.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	63					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AGTCCACACCGAAACGTACAT	0.458											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000524880.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(187-189)ttC>ttT		ALG9, alpha-1,2-mannosyltransferase							35.0	34.0	35.0					11																	111749420		1922	4123	6045	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111749420G>A		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.189C>T	11.37:g.111749420G>A		True	False		Somatic	0	OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	FDXACB1_ENST00000542429.1_Intron|FDXACB1_ENST00000260257.4_Silent_p.F63F	p.F63F			WXS	Illumina HiSeq	Phase_I	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	2	481	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	c.189C>T	CCDS44729.1																																																																																				0.458	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	0	NM_138378		11:111749420
ERO1L	30001	broad.mit.edu	37	14	53110325	53110325	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:53110325A>T	ENST00000395686.3	-	16	1593	c.1370T>A	c.(1369-1371)tTa>tAa	p.L457*	RP11-841O20.2_ENST00000554055.1_RNA	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	457					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GAAGTTTTCTAATTCTTTCAC	0.303																																						ENST00000395686.3		NA																ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1369-1371)tTa>tAa		ERO1-like (S. cerevisiae)							44.0	40.0	41.0					14																	53110325		2184	4289	6473	SO:0001587	stop_gained	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53110325A>T	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1370T>A	14.37:g.53110325A>T	ENSP00000379042:p.Leu457*	False	False		Somatic	0					p.L457*	NM_014584.1	NP_055399.1	WXS	Illumina HiSeq	Phase_I	Q96HE7	ERO1A_HUMAN			16	1593	-	Breast(41;0.226)		457					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Nonsense_Mutation	SNP	ENST00000395686.3	37	c.1370T>A	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	A	38	7.030927	0.98013	.	.	ENSG00000197930	ENST00000395686	.	.	.	5.54	5.54	0.83059	.	0.224298	0.37906	N	0.001898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.329	15.1606	0.72782	1.0:0.0:0.0:0.0	.	.	.	.	X	457	.	ENSP00000379042:L457X	L	-	2	0	ERO1L	52180075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.104000	0.89551	2.230000	0.72887	0.528000	0.53228	TTA		0.303	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	0	NM_014584		14:53110325
CSMD2	114784	broad.mit.edu	37	1	34068023	34068023	+	Missense_Mutation	SNP	C	C	T	rs373586316		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:34068023C>T	ENST00000373380.1	-	22	3495	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000373381.4_Missense_Mutation_p.R2219H			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2221	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGTTGAGGCGGACGCCATG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18234	0.0		0.0	False		,,,				2504	0.001					ENST00000373381.4		NA																	0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(6655-6657)cGc>cAc		CUB and Sushi multiple domains 2		C	HIS/ARG	0,4406		0,0,2203	69.0	70.0	70.0		6662	-3.3	0.7	1		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2221/3488	34068023	1,13005	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34068023C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3275G>A	1.37:g.34068023C>T	ENSP00000362478:p.Arg1092His	False	False		Somatic	0				CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R1092H|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H	p.R2219H	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina HiSeq	Phase_I	Q7Z408	CSMD2_HUMAN			43	6832	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2221			CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6656G>A		.	.	.	.	.	.	.	.	.	.	C	11.50	1.657455	0.29425	0.0	1.16E-4	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.28	-3.3	0.05003	CUB (5);	0.777035	0.12272	N	0.483686	T	0.07773	0.0195	N	0.16478	0.41	0.26223	N	0.979134	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.39375	-0.9617	10	0.18710	T	0.47	.	7.3106	0.26473	0.1403:0.1536:0.0:0.7061	.	1092;2221;2219	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	2219;1092;318;318	ENSP00000362479:R2219H;ENSP00000362478:R1092H;ENSP00000362475:R318H;ENSP00000362486:R318H	ENSP00000241312:R2221H	R	-	2	0	CSMD2	33840610	0.246000	0.23909	0.678000	0.29963	0.858000	0.48976	0.231000	0.17872	-0.459000	0.07013	-0.143000	0.13931	CGC		0.577	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	0	NM_052896		1:34068023
ASPM	259266	broad.mit.edu	37	1	197071382	197071382	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:197071382C>T	ENST00000367409.4	-	18	7255	c.6999G>A	c.(6997-6999)gaG>gaA	p.E2333E	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2333	IQ 22. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCCTGTGCATCTCTCGCATCC	0.408																																						ENST00000367409.4		NA																	0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6997-6999)gaG>gaA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							147.0	137.0	141.0					1																	197071382		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071382C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6999G>A	1.37:g.197071382C>T		True	False		Somatic	0				ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.E2333E	NM_018136.4	NP_060606.3	WXS	Illumina HiSeq	Phase_I	Q8IZT6	ASPM_HUMAN			18	7255	-			2333			IQ 22.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.6999G>A	CCDS1389.1																																																																																				0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	NM_018136		1:197071382
FOXO3	2309	broad.mit.edu	37	6	108985160	108985160	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:108985160C>G	ENST00000343882.6	+	3	1428	c.1124C>G	c.(1123-1125)aCc>aGc	p.T375S	FOXO3_ENST00000406360.1_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	375					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATGGCAGGCACCATGAATCTG	0.582																																						ENST00000406360.1		NA																	0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1123-1125)aCc>aGc		forkhead box O3							44.0	42.0	43.0					6																	108985160		2203	4300	6503	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985160C>G	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1124C>G	6.37:g.108985160C>G	ENSP00000339527:p.Thr375Ser	True	False		Somatic	0				FOXO3_ENST00000343882.6_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	p.T375S	NM_001455.3	NP_001446.1	WXS	Illumina HiSeq	Phase_I	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1467	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	375					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.1124C>G	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488937	0.26686	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.89681	-2.55;-2.55	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	L	0.43923	1.385	0.80722	D	1	P	0.40660	0.726	B	0.39617	0.305	T	0.80350	-0.1419	10	0.07325	T	0.83	-33.6779	19.4179	0.94709	0.0:1.0:0.0:0.0	.	375	O43524	FOXO3_HUMAN	S	375;375;155;155	ENSP00000339527:T375S;ENSP00000385824:T375S	ENSP00000339527:T375S	T	+	2	0	FOXO3	109091853	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.412000	0.80091	2.595000	0.87683	0.462000	0.41574	ACC		0.582	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2	0			6:108985160
A4GNT	51146	broad.mit.edu	37	3	137849964	137849964	+	Silent	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:137849964G>C	ENST00000236709.3	-	2	336	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	45					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGTGGCTCAGGAGGGCTTCCA	0.537																																						ENST00000236709.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(133-135)ctC>ctG		alpha-1,4-N-acetylglucosaminyltransferase							81.0	83.0	82.0					3																	137849964		2203	4300	6503	SO:0001819	synonymous_variant	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137849964G>C	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.135C>G	3.37:g.137849964G>C		False	False		Somatic	0					p.L45L	NM_016161.2	NP_057245.1	WXS	Illumina HiSeq	Phase_I	Q9UNA3	A4GCT_HUMAN			2	336	-			45					Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	c.135C>G	CCDS3097.1																																																																																				0.537	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	0	NM_016161		3:137849964
SVEP1	79987	broad.mit.edu	37	9	113169147	113169147	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:113169147C>G	ENST00000401783.2	-	38	9069	c.8733G>C	c.(8731-8733)aaG>aaC	p.K2911N	SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N|SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2911	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGTTACTTCCTTCATGAAGC	0.552																																						ENST00000401783.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8731-8733)aaG>aaC		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							103.0	104.0	104.0					9																	113169147		2061	4208	6269	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169147C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8733G>C	9.37:g.113169147C>G	ENSP00000384917:p.Lys2911Asn	True	False		Somatic	0				SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N|SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N	p.K2911N	NM_153366.3	NP_699197.3	WXS	Illumina HiSeq	Phase_I	Q4LDE5	SVEP1_HUMAN			38	9069	-			2911			Sushi 25.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8733G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927013	0.34002	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64085	-0.08;-0.08;-0.08	5.51	3.64	0.41730	Complement control module (2);Sushi/SCR/CCP (3);	0.285646	0.43919	D	0.000511	T	0.44808	0.1311	L	0.31526	0.94	0.80722	D	1	P	0.40578	0.722	B	0.39617	0.305	T	0.29912	-0.9996	10	0.30854	T	0.27	.	5.6066	0.17383	0.0:0.6236:0.0:0.3764	.	2911	Q4LDE5	SVEP1_HUMAN	N	2911;2888;837	ENSP00000384917:K2911N;ENSP00000363593:K2888N;ENSP00000297826:K837N	ENSP00000297826:K837N	K	-	3	2	SVEP1	112208968	0.920000	0.31207	1.000000	0.80357	0.876000	0.50452	-0.039000	0.12124	1.303000	0.44873	0.591000	0.81541	AAG		0.552	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:113169147
IGSF1	3547	broad.mit.edu	37	X	130409231	130409231	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:130409231G>C	ENST00000361420.3	-	17	3293	c.3214C>G	c.(3214-3216)Cag>Gag	p.Q1072E	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E|IGSF1_ENST00000370904.1_Missense_Mutation_p.Q1063E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1072	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.Q1072*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGACCAGGCTGGGCTAATAGG	0.542																																						ENST00000370904.1		NA																	1	Substitution - Nonsense(1)	p.Q1072*(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3187-3189)Cag>Gag		immunoglobulin superfamily, member 1							79.0	82.0	81.0					X																	130409231		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409231G>C	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3214C>G	X.37:g.130409231G>C	ENSP00000355010:p.Gln1072Glu	True	False		Somatic	0				IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q1072E|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E	p.Q1063E			WXS	Illumina HiSeq	Phase_I	Q8N6C5	IGSF1_HUMAN			23	4097	-			1072					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3187C>G	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474766	0.26511	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.751183	0.12360	N	0.475750	T	0.03651	0.0104	L	0.38953	1.18	0.28842	N	0.89655	B;B;B	0.23650	0.082;0.089;0.079	B;B;B	0.25614	0.036;0.062;0.039	T	0.25293	-1.0136	10	0.29301	T	0.29	.	12.231	0.54488	0.0:0.0:1.0:0.0	.	1063;516;1072	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	E	1063;1072;1063;1077	ENSP00000359947:Q1063E;ENSP00000355010:Q1072E;ENSP00000359941:Q1063E;ENSP00000359940:Q1077E	ENSP00000355010:Q1072E	Q	-	1	0	IGSF1	130236912	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	1.912000	0.39946	2.376000	0.81061	0.594000	0.82650	CAG		0.542	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	0			X:130409231
AK7	122481	broad.mit.edu	37	14	96864443	96864443	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:96864443T>G	ENST00000267584.4	+	2	181	c.137T>G	c.(136-138)cTt>cGt	p.L46R	AK7_ENST00000555570.1_Missense_Mutation_p.L46R	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	46					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGGGCTTCGCTTGAAGAAATT	0.418																																						ENST00000267584.4		NA																	0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(136-138)cTt>cGt		adenylate kinase 7							99.0	100.0	100.0					14																	96864443		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96864443T>G	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.137T>G	14.37:g.96864443T>G	ENSP00000267584:p.Leu46Arg	False	False		Somatic	0				AK7_ENST00000555570.1_Missense_Mutation_p.L46R	p.L46R	NM_152327.3	NP_689540.2	WXS	Illumina HiSeq	Phase_I	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	2	181	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	46					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.137T>G	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934844	0.52866	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.59906	0.23	5.35	5.35	0.76521	.	0.410741	0.24182	N	0.040799	T	0.72771	0.3502	L	0.60455	1.87	0.54753	D	0.99998	B;D	0.89917	0.206;1.0	B;D	0.91635	0.043;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.42	14.9864	0.71351	0.0:0.0:0.0:1.0	.	46;46	Q96M32;G3V365	KAD7_HUMAN;.	R	46	ENSP00000267584:L46R	ENSP00000267584:L46R	L	+	2	0	AK7	95934196	0.996000	0.38824	0.290000	0.24890	0.970000	0.65996	5.104000	0.64584	2.044000	0.60594	0.402000	0.26972	CTT		0.418	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	0			14:96864443
TAS2R42	353164	broad.mit.edu	37	12	11338898	11338898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:11338898G>A	ENST00000334266.1	-	1	645	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	216					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AAGGAACTGAGCTTCAAATTT	0.418																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1		NA																	0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(646-648)Ctc>Ttc		taste receptor, type 2, member 42							62.0	65.0	64.0					12																	11338898		2203	4300	6503	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11338898G>A	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.646C>T	12.37:g.11338898G>A	ENSP00000334050:p.Leu216Phe	False	False		Somatic	0					p.L216F	NM_181429.1	NP_852094.1	WXS	Illumina HiSeq	Phase_I	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	645	-			216					A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.646C>T	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	G	6.563	0.472116	0.12461	.	.	ENSG00000186136	ENST00000334266	T	0.00832	5.64	3.46	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.571166	0.14537	N	0.313489	T	0.02304	0.0071	M	0.69248	2.105	0.09310	N	1	P	0.41475	0.751	P	0.50860	0.652	T	0.38650	-0.9651	10	0.49607	T	0.09	.	6.0575	0.19819	0.0:0.2103:0.5725:0.2171	.	216	Q7RTR8	T2R42_HUMAN	F	216	ENSP00000334050:L216F	ENSP00000334050:L216F	L	-	1	0	TAS2R42	11230165	0.000000	0.05858	0.250000	0.24296	0.001000	0.01503	0.335000	0.19806	0.302000	0.22762	-1.083000	0.02208	CTC		0.418	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	0	NM_181429		12:11338898
MUC4	4585	broad.mit.edu	37	3	195517059	195517059	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:195517059C>A	ENST00000463781.3	-	2	1851	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	MUC4_ENST00000475231.1_Silent_p.R464R|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	469					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTCATGAGGCCGTCCTGTGG	0.493																																						ENST00000463781.3		NA																	0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1390-1392)cgG>cgT		mucin 4, cell surface associated							179.0	177.0	177.0					3																	195517059		1964	4143	6107	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517059C>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1392G>T	3.37:g.195517059C>A		False	False		Somatic	0				MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.R464R|MUC4_ENST00000346145.4_Intron	p.R464R	NM_018406.6	NP_060876.5	WXS	Illumina HiSeq	Phase_I	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1851	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	469					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.1392G>T	CCDS54700.1																																																																																				0.493	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	0	NM_018406		3:195517059
ZNF521	25925	broad.mit.edu	37	18	22805592	22805592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:22805592C>T	ENST00000361524.3	-	4	2438	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	764					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGTCAGTTTCGTTGCGGAAG	0.473			T	PAX5	ALL																																	ENST00000361524.3		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2290-2292)Gaa>Aaa		zinc finger protein 521							97.0	85.0	89.0					18																	22805592		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805592C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2290G>A	18.37:g.22805592C>T	ENSP00000354794:p.Glu764Lys	True	False		Somatic	0				ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K|ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K	p.E764K	NM_015461.2	NP_056276.1	WXS	Illumina HiSeq	Phase_I	Q96K83	ZN521_HUMAN			4	2438	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		764					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2290G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334661	0.24253	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08370	3.1;3.13	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.04116	-0.275	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	T	0.41752	-0.9491	10	0.07482	T	0.82	-36.5484	20.8794	0.99867	0.0:1.0:0.0:0.0	.	764	Q96K83	ZN521_HUMAN	K	764;798;764	ENSP00000354794:E764K;ENSP00000382352:E764K	ENSP00000354794:E764K	E	-	1	0	ZNF521	21059590	1.000000	0.71417	0.973000	0.42090	0.406000	0.30931	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAA		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	0	NM_015461		18:22805592
GALR1	2587	broad.mit.edu	37	18	74962928	74962928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:74962928C>T	ENST00000299727.3	+	1	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	142					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GCACTCGCGGCGCTCCTCCTC	0.657																																						ENST00000299727.3		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(424-426)Cgc>Tgc		galanin receptor 1							61.0	52.0	55.0					18																	74962928		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962928C>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.424C>T	18.37:g.74962928C>T	ENSP00000299727:p.Arg142Cys	False	False		Somatic	0					p.R142C	NM_001480.3	NP_001471.2	WXS	Illumina HiSeq	Phase_I	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	424	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	142					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.424C>T	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897440	0.52121	.	.	ENSG00000166573	ENST00000299727	T	0.43294	0.95	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.053378	0.64402	D	0.000001	T	0.60919	0.2306	M	0.79805	2.47	0.58432	D	0.999997	D	0.65815	0.995	P	0.60345	0.873	T	0.67213	-0.5727	10	0.87932	D	0	.	11.9672	0.53042	0.1737:0.8263:0.0:0.0	.	142	P47211	GALR1_HUMAN	C	142	ENSP00000299727:R142C	ENSP00000299727:R142C	R	+	1	0	GALR1	73091916	0.998000	0.40836	1.000000	0.80357	0.380000	0.30137	3.631000	0.54280	2.044000	0.60594	0.591000	0.81541	CGC		0.657	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1	0			18:74962928
CECR2	27443	broad.mit.edu	37	22	18003349	18003349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:18003349G>A	ENST00000262608.8	+	8	1037	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	CECR2_ENST00000400573.5_Intron|CECR2_ENST00000342247.5_Missense_Mutation_p.R317H|CECR2_ENST00000400585.2_Intron	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	387					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCGACCAGCCGTCCTGTAGCC	0.448																																						ENST00000262608.8		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1036-1038)cGt>cAt		cat eye syndrome chromosome region, candidate 2							53.0	61.0	58.0					22																	18003349		2143	4241	6384	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18003349G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000262608.8:c.1037G>A	22.37:g.18003349G>A	ENSP00000262608:p.Arg346His	False	False		Somatic	0				CECR2_ENST00000342247.5_Missense_Mutation_p.R317H|CECR2_ENST00000400585.2_Intron|CECR2_ENST00000400573.5_Intron	p.R346H	NM_031413.3	NP_113601.2	WXS	Illumina HiSeq	Phase_I	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	8	1037	+		all_epithelial(15;0.139)	387					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000262608.8	37	c.1037G>A		.	.	.	.	.	.	.	.	.	.	G	4.349	0.064200	0.08388	.	.	ENSG00000099954	ENST00000342247;ENST00000262608	T;T	0.25414	2.08;1.8	3.24	-6.48	0.01896	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26643	-1.0097	8	.	.	.	.	2.4034	0.04407	0.5132:0.1197:0.1998:0.1673	.	387;359	Q9BXF3;Q9BXF3-2	CECR2_HUMAN;.	H	317;346	ENSP00000341219:R317H;ENSP00000262608:R346H	.	R	+	2	0	CECR2	16383349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.710000	0.00387	-2.277000	0.00677	-2.302000	0.00260	CGT		0.448	CECR2-201	KNOWN	basic	protein_coding	protein_coding		0	NM_031413		22:18003349
GPR83	10888	broad.mit.edu	37	11	94134167	94134167	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:94134167C>A	ENST00000243673.2	-	1	418	c.247G>T	c.(247-249)Gtc>Ttc	p.V83F	GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	83					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGTGAGAAGACAATGATGAAG	0.557																																						ENST00000243673.2		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(247-249)Gtc>Ttc		G protein-coupled receptor 83							98.0	90.0	93.0					11																	94134167		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134167C>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.247G>T	11.37:g.94134167C>A	ENSP00000243673:p.Val83Phe	False	False		Somatic	0				GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	p.V83F	NM_016540.3	NP_057624.3	WXS	Illumina HiSeq	Phase_I	Q9NYM4	GPR83_HUMAN			1	418	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	83					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.247G>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475211	0.43942	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.39997	1.05;1.05	4.84	-4.47	0.03525	.	0.508381	0.21011	N	0.081692	T	0.33673	0.0871	L	0.59436	1.845	0.44702	D	0.997697	B	0.19706	0.038	B	0.17433	0.018	T	0.02774	-1.1112	10	0.46703	T	0.11	.	11.5618	0.50780	0.0:0.4821:0.0:0.5179	.	83	Q9NYM4	GPR83_HUMAN	F	83	ENSP00000243673:V83F;ENSP00000441550:V83F	ENSP00000243673:V83F	V	-	1	0	GPR83	93773815	0.059000	0.20769	0.684000	0.30055	0.982000	0.71751	0.089000	0.15002	-1.110000	0.02992	0.455000	0.32223	GTC		0.557	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	0	NM_016540		11:94134167
PDS5B	23047	broad.mit.edu	37	13	33332728	33332728	+	Silent	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33332728A>G	ENST00000315596.10	+	28	3432	c.3246A>G	c.(3244-3246)acA>acG	p.T1082T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1082					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAGTACTACATACAGTTTGG	0.358																																						ENST00000315596.10		NA																	0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(3244-3246)acA>acG		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							128.0	124.0	125.0					13																	33332728		1851	4088	5939	SO:0001819	synonymous_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33332728A>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3246A>G	13.37:g.33332728A>G		True	False		Somatic	0					p.T1082T	NM_015032.3	NP_055847.1	WXS	Illumina HiSeq	Phase_I	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	28	3432	+		Lung SC(185;0.0367)	1082					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	c.3246A>G	CCDS41878.1																																																																																				0.358	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	0	NM_015032		13:33332728
PRDM12	59335	broad.mit.edu	37	9	133540159	133540159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:133540159G>A	ENST00000253008.2	+	1	179	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	40					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CTGTACGGCCGCTGGCGCAAC	0.677																																						ENST00000253008.2		NA																	0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(118-120)cGc>cAc		PR domain containing 12							16.0	14.0	15.0					9																	133540159		2173	4237	6410	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133540159G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.119G>A	9.37:g.133540159G>A	ENSP00000253008:p.Arg40His	False	False		Somatic	0					p.R40H	NM_021619.2	NP_067632.2	WXS	Illumina HiSeq	Phase_I	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	1	179	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	40					A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.119G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905725	0.52333	.	.	ENSG00000130711	ENST00000253008	T	0.09723	2.95	4.48	3.51	0.40186	.	0.054397	0.64402	D	0.000002	T	0.06645	0.0170	L	0.29908	0.895	0.44079	D	0.996835	P	0.48640	0.913	B	0.36766	0.232	T	0.44190	-0.9344	10	0.16420	T	0.52	-16.2368	11.8827	0.52583	0.0:0.0:0.8247:0.1752	.	40	Q9H4Q4	PRD12_HUMAN	H	40	ENSP00000253008:R40H	ENSP00000253008:R40H	R	+	2	0	PRDM12	132529980	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.872000	0.75536	2.026000	0.59711	0.462000	0.41574	CGC		0.677	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	0	NM_021619		9:133540159
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAAAGTAATTCGGGGGCTCTC	0.413																																						ENST00000356297.4		NA																	0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(703-705)cGa>cAa		peroxidasin homolog (Drosophila)-like							96.0	90.0	92.0					8																	52384855		1837	4075	5912	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384855C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.704G>A	8.37:g.52384855C>T	ENSP00000348645:p.Arg235Gln	True	False		Somatic	0				PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	p.R235Q	NM_144651.4	NP_653252	WXS	Illumina HiSeq	Phase_I	A1KZ92	PXDNL_HUMAN			8	804	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	235			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.704G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.25332	0.735	0.24906	N	0.992072	P	0.47350	0.894	B	0.42495	0.389	T	0.30909	-0.9962	9	0.27785	T	0.31	.	9.0746	0.36513	0.0:0.8869:0.0:0.1131	.	235	A1KZ92	PXDNL_HUMAN	Q	235	ENSP00000348645:R235Q;ENSP00000444865:R235Q	ENSP00000348645:R235Q	R	-	2	0	PXDNL	52547408	0.542000	0.26426	0.060000	0.19600	0.164000	0.22412	3.613000	0.54152	0.627000	0.30340	-0.350000	0.07774	CGA		0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	0	NM_144651		8:52384855
DNAH17	8632	broad.mit.edu	37	17	76459132	76459132	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76459132A>G	ENST00000585328.1	-	57	9077	c.8953T>C	c.(8953-8955)Ttc>Ctc	p.F2985L	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.F2976L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2976	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGGACATGAAGAAGCTGATG	0.542																																						ENST00000389840.5		NA																	0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8926-8928)Ttc>Ctc		dynein, axonemal, heavy chain 17							131.0	100.0	111.0					17																	76459132		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76459132A>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8953T>C	17.37:g.76459132A>G	ENSP00000465516:p.Phe2985Leu	False	False		Somatic	0				DNAH17_ENST00000585328.1_Missense_Mutation_p.F2985L|DNAH17_ENST00000586052.1_5'UTR	p.F2976L			WXS	Illumina HiSeq	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9050	-			NA					O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8926T>C		.	.	.	.	.	.	.	.	.	.	A	25.9	4.688192	0.88639	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54071	0.59	4.91	4.91	0.64330	.	.	.	.	.	T	0.64283	0.2584	M	0.64676	1.99	0.47862	D	0.999534	.	.	.	.	.	.	T	0.67917	-0.5546	7	0.66056	D	0.02	.	14.2019	0.65710	1.0:0.0:0.0:0.0	.	.	.	.	L	2985;2976	ENSP00000374490:F2976L	ENSP00000300671:F2985L	F	-	1	0	DNAH17	73970727	1.000000	0.71417	0.940000	0.37924	0.747000	0.42532	8.838000	0.92115	1.847000	0.53656	0.454000	0.30748	TTC		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	0	NM_173628		17:76459132
DDX31	64794	broad.mit.edu	37	9	135487492	135487492	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135487492C>G	ENST00000372159.3	-	19	2442	c.2291G>C	c.(2290-2292)aGg>aCg	p.R764T	DDX31_ENST00000372153.1_Missense_Mutation_p.R691T|DDX31_ENST00000438527.3_Missense_Mutation_p.R635T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	764						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GTGTGCTTTCCTCTTCTTTCT	0.532																																						ENST00000372159.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(2290-2292)aGg>aCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							228.0	181.0	197.0					9																	135487492		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135487492C>G	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2291G>C	9.37:g.135487492C>G	ENSP00000361232:p.Arg764Thr	False	False		Somatic	0				DDX31_ENST00000372153.1_Missense_Mutation_p.R691T|DDX31_ENST00000438527.3_Missense_Mutation_p.R635T	p.R764T	NM_022779.7	NP_073616.6	WXS	Illumina HiSeq	Phase_I	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	19	2442	-			764					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.2291G>C	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719394	0.30503	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	T;T;T	0.03717	4.33;3.83;4.29	5.84	-2.42	0.06542	.	0.976044	0.08418	N	0.948855	T	0.03434	0.0099	L	0.38175	1.15	0.80722	D	1	B;B	0.20671	0.047;0.04	B;B	0.15484	0.013;0.008	T	0.34601	-0.9822	10	0.34782	T	0.22	-5.4579	8.5087	0.33204	0.0:0.2988:0.1156:0.5855	.	691;764	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	T	764;691;635	ENSP00000361232:R764T;ENSP00000361226:R691T;ENSP00000387730:R635T	ENSP00000361226:R691T	R	-	2	0	DDX31	134477313	0.449000	0.25689	0.028000	0.17463	0.076000	0.17211	-0.315000	0.08081	-0.512000	0.06505	-0.768000	0.03414	AGG		0.532	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	0	NM_138620		9:135487492
PC	5091	broad.mit.edu	37	11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:66638642C>T	ENST00000393958.2	-	6	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000393960.1_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000393955.2_Missense_Mutation_p.A172T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622																																						ENST00000393960.1		NA																	0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(514-516)Gcc>Acc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						122.0	125.0	124.0					11																	66638642		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638642C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.514G>A	11.37:g.66638642C>T	ENSP00000377530:p.Ala172Thr	True	False		Somatic	0				PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000393958.2_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T	p.A172T	NM_001040716.1	NP_001035806.1	WXS	Illumina HiSeq	Phase_I	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	7	795	-		Melanoma(852;0.0525)	172			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.514G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611298	0.46631	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.35	0.917	0.19380	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.280748	0.33610	N	0.004721	D	0.91472	0.7308	N	0.13272	0.32	0.25049	N	0.991147	B	0.06786	0.001	B	0.11329	0.006	D	0.84620	0.0683	10	0.51188	T	0.08	-22.3962	3.8827	0.09085	0.407:0.3854:0.126:0.0816	.	172	P11498	PYC_HUMAN	T	172;172;172;132;172	ENSP00000377527:A172T;ENSP00000377530:A172T;ENSP00000377532:A172T;ENSP00000434192:A132T;ENSP00000347900:A172T	ENSP00000347900:A172T	A	-	1	0	PC	66395218	0.018000	0.18449	0.594000	0.28785	0.755000	0.42902	0.226000	0.17776	0.566000	0.29273	0.655000	0.94253	GCC		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	0	NM_001040716		11:66638642
PARK2	5071	broad.mit.edu	37	6	162864492	162864492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:162864492G>T	ENST00000366898.1	-	2	123	c.21C>A	c.(19-21)ttC>ttA	p.F7L	PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000366894.1_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	7	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTGGAGTTGAACCTGACAA	0.498																																						ENST00000366898.1		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(19-21)ttC>ttA		parkin RBR E3 ubiquitin protein ligase							108.0	93.0	98.0					6																	162864492		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162864492G>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.21C>A	6.37:g.162864492G>T	ENSP00000355865:p.Phe7Leu	False	False		Somatic	0				PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR	p.F7L	NM_004562.2	NP_004553.2	WXS	Illumina HiSeq	Phase_I	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	2	123	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	7			Ubiquitin-like.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.21C>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682026	0.68042	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (1);	0.058575	0.64402	D	0.000002	D	0.96371	0.8816	M	0.61703	1.905	0.33160	D	0.546906	D;P;D;D	0.76494	0.999;0.88;0.997;0.995	D;D;D;D	0.80764	0.994;0.946;0.958;0.958	D	0.95618	0.8678	10	0.44086	T	0.13	.	14.8348	0.70175	0.0:0.0:0.8561:0.1438	.	7;7;7;7	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	L	7;7;7;7;6	ENSP00000355865:F7L;ENSP00000355863:F7L;ENSP00000355862:F7L;ENSP00000355858:F7L	ENSP00000355858:F7L	F	-	3	2	PARK2	162784482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.700000	0.54786	2.805000	0.96524	0.655000	0.94253	TTC		0.498	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1	0			6:162864492
MTM1	4534	broad.mit.edu	37	X	149826497	149826497	+	Silent	SNP	A	A	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:149826497A>C	ENST00000370396.2	+	11	1311	c.1257A>C	c.(1255-1257)gcA>gcC	p.A419A	MTM1_ENST00000543350.1_Silent_p.A304A|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	419	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAATTTGCATCTGTGAGTA	0.318																																						ENST00000370396.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1255-1257)gcA>gcC		myotubularin 1							87.0	79.0	82.0					X																	149826497		2203	4300	6503	SO:0001819	synonymous_variant	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149826497A>C	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1257A>C	X.37:g.149826497A>C		False	False		Somatic	0				MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A	p.A419A	NM_000252.2	NP_000243.1	WXS	Illumina HiSeq	Phase_I	Q13496	MTM1_HUMAN			11	1311	+	Acute lymphoblastic leukemia(192;6.56e-05)		419			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Silent	SNP	ENST00000370396.2	37	c.1257A>C	CCDS14694.1																																																																																				0.318	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	0	NM_000252		X:149826497
CACNA1A	773	broad.mit.edu	37	19	13409765	13409765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:13409765C>A	ENST00000360228.5	-	19	2681	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	895					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTAGGGTCCCTCCCGGCTCA	0.771																																						ENST00000360228.5		NA																	0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2680-2682)gaG>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						6.0	7.0	7.0					19																	13409765		1767	3894	5661	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409765C>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2682G>T	19.37:g.13409765C>A	ENSP00000353362:p.Glu894Asp	True	False		Somatic	0				CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	p.E894D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	WXS	Illumina HiSeq	Phase_I	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2681	-			895					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2682G>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	8.851	0.944677	0.18356	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	4.22	1.84	0.25277	.	4.895700	0.00541	N	0.000225	D	0.94948	0.8366	L	0.34521	1.04	0.20703	N	0.999864	B;P;D	0.58268	0.0;0.729;0.982	B;B;D	0.67548	0.001;0.21;0.952	D	0.86068	0.1536	10	0.21540	T	0.41	.	2.0266	0.03520	0.2518:0.3677:0.0:0.3805	.	895;898;894	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	894;898;895;895	ENSP00000353362:E894D	ENSP00000317661:E895D	E	-	3	2	CACNA1A	13270765	0.044000	0.20184	0.901000	0.35422	0.017000	0.09413	-0.312000	0.08113	0.768000	0.33290	-0.481000	0.04817	GAG		0.771	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	0	NM_000068		19:13409765
GDF11	10220	broad.mit.edu	37	12	56142711	56142711	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:56142711G>C	ENST00000257868.5	+	2	824	c.787G>C	c.(787-789)Gat>Cat	p.D263H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	263					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAACGCCTTTGATCCCAGTGG	0.622																																						ENST00000257868.5		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(787-789)Gat>Cat		growth differentiation factor 11							50.0	34.0	39.0					12																	56142711		2203	4300	6503	SO:0001583	missense	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56142711G>C	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.787G>C	12.37:g.56142711G>C	ENSP00000257868:p.Asp263His	True	False		Somatic	0					p.D263H	NM_005811.3	NP_005802.1	WXS	Illumina HiSeq	Phase_I	O95390	GDF11_HUMAN			2	824	+			263					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.787G>C	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.350476|4.350476	0.82132|0.82132	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.66280|.	-0.2|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74786|0.74786	0.3762|0.3762	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.77004|.	0.989|.	T|T	0.76107|0.76107	-0.3080|-0.3080	10|5	0.40728|.	T|.	0.16|.	-6.1484|-6.1484	14.8487|14.8487	0.70281|0.70281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263|.	O95390|.	GDF11_HUMAN|.	H|F	263|235	ENSP00000257868:D263H|.	ENSP00000257868:D263H|.	D|L	+|+	1|3	0|2	GDF11|GDF11	54428978|54428978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.450000|2.450000	0.82876|0.82876	0.555000|0.555000	0.69702|0.69702	GAT|TTG		0.622	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3	0			12:56142711
