#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
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		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000392859.3_Intron|ARCN1_ENST00000534182.2_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs|ARCN1_ENST00000359415.4_Frame_Shift_Del_p.AVCTKAGKAIVSR48fs	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																																						ENST00000264028.4	1.000000	0.390000	1.000000	0.450000	0.520000	0.599614	0.520000	0.500000																										1	Substitution - Missense(1)	p.A15T(1)	urinary_tract(1)	13						c.(19-57)gcggtctgcacaaaagcaggaaaggctattgtttctcgafs		archain 1																																				SO:0001589	frameshift_variant	372	0	0					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	chr11.hg19:g.118451977_118452014delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	ENSP00000264028:p.Ala7fs	1					ARCN1_ENST00000359415.4_Frame_Shift_Del_p.AVCTKAGKAIVSR48fs|ARCN1_ENST00000534182.2_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs|ARCN1_ENST00000392859.3_Intron	p.AVCTKAGKAIVSR7fs	NM_001655.4	NP_001646.2	1	2	3	2.285822	P48444	COPD_HUMAN		2	115_152	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	B4E1X2|E9PEU4|Q52M80	Frame_Shift_Del	DEL	ENST00000264028.4	1	0	hg19	c.20_57delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CCDS8400.1	0																																																																																								0.437016		TCGA-IB-7652-01A-11D-2154-08	0.420	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1	1	0	1		24	2		0		0	5	298		298	302	1	1.990000	-2.665581	1	0.360000				54	104		617	664	0		1	0		0	0	298	0		0.999990	9.999996e-01		0	0	242	0	54	617
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								Untested	Somatic	Phase_I	WXS	none			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	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_5'Flank|E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del|DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank|E4F1_ENST00000565090.1_Intron|DNASE1L2_ENST00000564065.1_5'Flank	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	1.000000	0.310000	0.690000	0.410000	0.530000	0.559520	0.530000	0.510000																										0				1						c.(1381-1401)aggccgttcgcctgcgcgcag>agg		E4F transcription factor 1																																				SO:0001651	inframe_deletion	1877	0	0					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	chr16.hg19:g.2284179_2284196delGCCGTTCGCCTGCGCGCA	ENSP00000301727:p.Pro462_Gln467del	0					RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank|E4F1_ENST00000565090.1_Intron|DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank	p.PFACAQ462del	NM_004424.3	NP_004415.2	1	2	3	2.029570	Q66K89	E4F1_HUMAN		10	1431_1448	+			A8K2R4|O00146	In_Frame_Del	DEL	ENST00000301727.4	1	1	hg19	c.1383_1400delGCCGTTCGCCTGCGCGCA	CCDS32370.1	0																																																																																								0.365709		TCGA-IB-7652-01A-11D-2154-08	0.693	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	1	0	1		10	2	2	0		0	2	110		110	119	1	1.990000	-19.998440	1	0.360000	NM_004424			16	24		156	165	0		1	0	0	0	0	110	0		0.951935	8.440212e-01	0	0	0	35	1	16	156
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	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	0.620000	0.230000	0.500000	0.300000	0.390000	0.409252	0.390000	0.390000																										0				34						c.(541-561)tccgtgttcacaccagcctatfs		Ras association (RalGDS/AF-6) domain family member 2																																				SO:0001589	frameshift_variant	9770	0	0					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	chr20.hg19:g.4770321_4770339delTAGGCTGGTGTGAACACGG	ENSP00000368710:p.Ser181fs	0					RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	p.SVFTPAY181fs	NM_014737.2	NP_055552.1	1	2	3	2.016887	P50749	RASF2_HUMAN		8	737_755	-			A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Frame_Shift_Del	DEL	ENST00000379400.3	1	1	hg19	c.542_560delCCGTGTTCACACCAGCCTA	CCDS13083.1	0																																																																																								0.362296		TCGA-IB-7652-01A-11D-2154-08	0.539	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	1	0	1		2	2		0		0	0	131		131	129	1	1.990000	-19.970650	1	0.360000	NM_014737			17	26		228	238	0		1	0		0	0	131	0		0.999985	8.708160e-01		0	0	51	0	17	228
CACNA2D3	55799	broad.mit.edu	37	3	55021718	55021719	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:55021718_55021719delCT	ENST00000474759.1	+	31	2676_2677	c.2628_2629delCT	c.(2626-2631)gactttfs	p.F878fs	CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.F878fs|CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.F784fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.F878fs|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	878						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGACTGGAGACTTTTTTGGTGA	0.436																																						ENST00000474759.1	0.880000	0.410000	0.760000	0.510000	0.630000	0.645227	0.630000	0.620000																										0				59						c.(2626-2631)gactttfs		calcium channel, voltage-dependent, alpha 2/delta subunit 3	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)																																			SO:0001589	frameshift_variant	55799	0	0					g.chr3:55021718_55021719delCT	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2628_2629delCT	chr3.hg19:g.55021718_55021719delCT	ENSP00000419101:p.Phe878fs	0					CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.F784fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.F878fs|CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.F878fs|CACNA2D3_ENST00000478261.1_3'UTR	p.F878fs	NM_018398.2	NP_060868.2	0	0	0	1.994361	Q8IZS8	CA2D3_HUMAN		31	2676_2677	+			B2RPL6|Q9NY16|Q9NY18	Frame_Shift_Del	DEL	ENST00000474759.1	1	1	hg19	c.2628_2629delCT	CCDS54598.1	0																																																																																								0.357688		TCGA-IB-7652-01A-11D-2154-08	0.436	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1	1	0	0		2	2		0		0	0	110		110	111	1	1.990000	-10.716640	1	0.360000				23	25		179	176	0		1	0		0	0	110	0		1.000000	4.583729e-01		0	0	13	0	23	179
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								Untested	Somatic	Phase_I	WXS	none			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	0.210000	0.100000	0.190000	0.120000	0.150000	0.161833	0.150000	0.160000																										1	Substitution - Missense(1)	p.C2022Y(1)	ovary(1)	148						c.(6046-6078)acccctaaatctcctaagtgtagagcagagggc>acc		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037	0	0					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	chr5.hg19:g.32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENSP00000402033:p.Pro2017_Gly2026del	0					PDZD2_ENST00000282493.3_In_Frame_Del_p.PKSPKCRAEG2017del	p.PKSPKCRAEG2017del			0	0	0	1.992041	O15018	PDZD2_HUMAN		20	6436_6465	+			Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	1	1	hg19	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCDS34137.1	0																																																																																								0.357688		TCGA-IB-7652-01A-11D-2154-08	0.635	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1	0	0	1		32	2		0		0	10	784		784	784	1	1.990000	-2.095622	0	0.360000				37	135		1259	1349	0		1	0		0	0	784	0		0.903067	2.582762e-03		0	0	3	0	37	1259
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								Untested	Somatic	Phase_I	WXS	none			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																																						ENST00000276202.7	0.680000	0.440000	0.620000	0.490000	0.550000	0.565727	0.550000	0.560000																										0				84						c.(2731-2745)tatctaagatcattcfs		dedicator of cytokinesis 11																																				SO:0001589	frameshift_variant	139818	0	0					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	chrX.hg19:g.117742086_117742096delTCTAAGATCAT	ENSP00000276202:p.Leu912fs						DOCK11_ENST00000276204.6_Frame_Shift_Del_p.LRSF912fs	p.LRSF912fs	NM_144658.3	NP_653259.3	0	1	1		Q5JSL3	DOC11_HUMAN		25	2796_2806	+			A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	ENST00000276202.7	1	1	hg19	c.2733_2743delTCTAAGATCAT	CCDS35373.1	0																																																																																								0.360000		TCGA-IB-7652-01A-11D-2154-08	0.313	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	0	0	1		29	2		0		0	3	176		176	178	1	1.990000	-3.221883	1	0.360000	NM_144658			78	125		694	740	0		1	1		0	0	176	0		1.000000	9.377920e-01		2	0	41	0	78	694
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	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000307544.6_Silent_p.S186S|KIAA1217_ENST00000376451.2_Silent_p.S186S|KIAA1217_ENST00000376452.3_Silent_p.S468S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000396445.1_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																																						ENST00000376454.3	1.000000	0.810000	1.000000	0.910000	0.990000	0.967364	0.990000	1.000000																										0				70						c.(1402-1404)tcC>tcA		KIAA1217							86.0	72.0	77.0					10																	24762714		2203	4300	6503	SO:0001819	synonymous_variant	56243	0	0					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	chr10.hg19:g.24762714C>A		0					KIAA1217_ENST00000307544.6_Silent_p.S186S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000376451.2_Silent_p.S186S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000376452.3_Silent_p.S468S	p.S468S	NM_019590.3	NP_062536.2	1	2	3	2.003885	Q5T5P2	SKT_HUMAN		6	1434	+			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	1	1	hg19	c.1404C>A	CCDS31165.1	1																																																																																								0.361150		TCGA-IB-7652-01A-11D-2154-08	0.507	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1		2	2	2	0		0	0	164		164	161	1	1.990000	-3.313313	1	0.360000	NM_019590			78	78		350	346	1		1	1	0	0	0	164	0		1.000000	1	0	46	0	155	1	78	350
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	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000542815.3_Missense_Mutation_p.P784S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.P835S			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)	ENST00000320985.10	1.000000	0.810000	1.000000	0.920000	0.990000	0.972076	0.990000	1.000000																										0				77						c.(2551-2553)Cct>Tct		zinc finger E-box binding homeobox 1							83.0	83.0	83.0					10																	31810814		2203	4300	6503	SO:0001583	missense	6935	0	0					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	chr10.hg19:g.31810814C>T	ENSP00000319248:p.Pro851Ser	0					ZEB1_ENST00000446923.2_Missense_Mutation_p.P835S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S	p.P851S			1	2	3	2.003885	P37275	ZEB1_HUMAN		7	2661	+		Prostate(175;0.0156)	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	1	1	hg19	c.2551C>T	CCDS7169.1	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	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	0	ZEB1	31850820	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	0.361150		TCGA-IB-7652-01A-11D-2154-08	0.463	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	1	0	1		2	2	2	0		0	0	112		112	109	1	1.990000	-20.000000	1	0.360000	NM_030751			62	62		270	266	1		1	0		0	0	112	0		1.000000	1	0	0	0	157	0	62	270
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.810000	1.000000	0.900000	0.990000	0.966415	0.990000	1.000000																										0				12						c.(43-45)tcC>tcT		myozenin 1							171.0	147.0	155.0					10																	75399731		2203	4300	6503	SO:0001819	synonymous_variant	58529	0	0					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	chr10.hg19:g.75399731G>A		0						p.S15S	NM_021245.3	NP_067068.1	1	2	3	2.023677				2	409	-	Prostate(51;0.0112)			Silent	SNP	ENST00000359322.4	1	1	hg19	c.45C>T	CCDS7330.1	1																																																																																								0.364575		TCGA-IB-7652-01A-11D-2154-08	0.517	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1	1	0	1		2	2	2	0		0	0	213		213	213	1	1.990000	-2.961924	1	0.360000				75	73		340	338	1		1	0		0	0	213	0		1.000000	9.655258e-01	0	0	0	27	0	75	340
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.120000	1.000000	0.140000	0.180000	0.322576	0.180000	0.170000																										0				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	1	120822	35				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	chr11.hg19:g.108032080C>T	ENSP00000278612:p.Glu1245Lys	1						p.E1245K	NM_002519.2	NP_002510.2	1	2	3	2.285822	Q14207	NPAT_HUMAN		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)	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	1	1	hg19	c.3733G>A	CCDS41710.1	0	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616831	0.66672	.	.	ENSG00000149308	ENST00000278612	T	0.07567	3.18	5.24	5.24	0.73138	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	0	NPAT	107537290	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	0.437016		TCGA-IB-7652-01A-11D-2154-08	0.433	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	0	0	1		2	2	2	0		0	0	423		423	419	1	1.990000	-2.614862	1	0.360000	NM_002519			40	39		1398	1387	0		1	0		0	0	423	0		1.000000	7.800570e-01	0	1	0	101	0	40	1398
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.820000	0.990000	0.890000	0.950000	0.947551	0.950000	0.990000																										0				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	9	121338	40				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	chr11.hg19:g.7949776A>G	ENSP00000312470:p.Ile145Thr	1						p.I145T	NM_001004461.1	NP_001004461.1	0	1	1	1.639578	Q8NH74	O10A6_HUMAN		1	433	-			Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	1	1	hg19	c.434T>C	CCDS31420.1	1	.	.	.	.	.	.	.	.	.	.	A	1.813	-0.474282	0.04414	.	.	ENSG00000175393	ENST00000309838	T	0.43688	0.94	4.41	4.41	0.53225	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	0	OR10A6	7906352	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	0.219512		TCGA-IB-7652-01A-11D-2154-08	0.338	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	1	0	1		2	2	2	0		0	0	62		62	62	1	1.990000	-20.000000	1	0.360000	NM_001004461			83	82		266	265	1		1			0	0	62	0		1.000000	0	0	0	0	0	0	83	266
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								Untested	Somatic	Phase_I	WXS	none			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	0.830000	0.530000	0.760000	0.600000	0.670000	0.684137	0.670000	0.680000																										0				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	0	0					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	chr11.hg19:g.56468064T>C		0						p.F67F	NM_001005213.1	NP_001005213.1	0	0	0	1.914842	Q8NH87	OR9G1_HUMAN		1	201	+			Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	1	1	hg19	c.201T>C	CCDS31536.1	0																																																																																								0.328577		TCGA-IB-7652-01A-11D-2154-08	0.463	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	0	0	1		2	2	2	0		0	0	145		145	150	1	1.990000	-20.000000	1	0.360000	NM_001005213			72	67		489	395	0		1			0	0	145	0		1.000000	0	0	0	0	0	0	72	489
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q|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	1.000000	0.040000	0.140000	0.060000	0.090000	0.157837	0.090000	0.090000																										0				23						c.(754-756)cTg>cAg		solute carrier family 22 (organic anion/urate transporter), member 11	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)						74.0	80.0	78.0					11																	64329841		2201	4297	6498	SO:0001583	missense	55867	0	0					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	chr11.hg19:g.64329841T>A	ENSP00000301891:p.Leu252Gln	0					SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q	p.L252Q	NM_018484.2	NP_060954.1	1	2	3	2.051876	Q9NSA0	S22AB_HUMAN		4	1129	+			A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	0	1	hg19	c.755T>A	CCDS8074.1	0	.	.	.	.	.	.	.	.	.	.	.	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	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	0	SLC22A11	64086417	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	0.369085		TCGA-IB-7652-01A-11D-2154-08	0.627	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	0	0	0		2	2	2	0		0	0	271		271	266	1	1.990000	-8.621009	1	0.360000	NM_018484			11	11		662	659	0		1	0		0	0	271	0		0.998319	1.008534e-03	0	0	0	3	0	11	662
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000393960.1_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																																						ENST00000393958.2	1.000000	0.640000	1.000000	0.740000	0.860000	0.863497	0.860000	1.000000																										0				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	0	0					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	chr11.hg19:g.66638642C>T	ENSP00000377530:p.Ala172Thr	0					PC_ENST00000393960.1_Missense_Mutation_p.A172T|PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T	p.A172T	NM_000920.3	NP_000911.2	1	2	3	2.051876	P11498	PYC_HUMAN		6	607	-		Melanoma(852;0.0525)	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	1	1	hg19	c.514G>A	CCDS8152.1	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	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	0	PC	66395218	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	0.369085		TCGA-IB-7652-01A-11D-2154-08	0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	1	0	1		2	2	2	0		0	0	146		146	143	1	1.990000	-19.999710	1	0.360000	NM_001040716			48	48		269	269	1		1	0		0	0	146	0		1.000000	8.045444e-01	0	1	0	18	0	48	269
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000354755.1_Nonsense_Mutation_p.Q506*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000278487.3_Nonsense_Mutation_p.Q331*	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																																						ENST00000445632.2	1.000000	0.820000	1.000000	0.930000	0.990000	0.975612	0.990000	1.000000																										0				20						c.(1786-1788)Cag>Tag		coiled-coil domain containing 81							136.0	113.0	121.0					11																	86131064		2202	4299	6501	SO:0001587	stop_gained	60494	0	0					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	chr11.hg19:g.86131064C>T	ENSP00000415528:p.Gln596*	0					CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*|CCDC81_ENST00000278487.3_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*	p.Q596*	NM_001156474.1	NP_001149946.1	1	2	3	2.011981	Q6ZN84	CCD81_HUMAN		14	2058	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	A0AVL7|Q53FW3|Q9H5E5	Nonsense_Mutation	SNP	ENST00000445632.2	0	1	hg19	c.1786C>T	CCDS53691.1	1	.	.	.	.	.	.	.	.	.	.	C	47	13.881331	0.99768	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.69	5.69	0.88448	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	0	CCDC81	85808712	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	0.361150		TCGA-IB-7652-01A-11D-2154-08	0.517	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	1	0	1		2	2	2	0		0	0	147		147	147	1	1.990000	-20.000000	1	0.360000	NM_021827			63	63		271	270	1		1	0		0	0	147	0		1.000000	3.214115e-01	0	0	0	6	0	63	271
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.900000	1.000000	0.990000	0.990000	0.993773	0.990000	1.000000																										0				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	0	0					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	chr11.hg19:g.94134167C>A	ENSP00000243673:p.Val83Phe	0					GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	p.V83F	NM_016540.3	NP_057624.3	1	2	3	2.011981	Q9NYM4	GPR83_HUMAN		1	418	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	1	1	hg19	c.247G>T	CCDS8297.1	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	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	0	GPR83	93773815	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	0.361150		TCGA-IB-7652-01A-11D-2154-08	0.557	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	1	0	1		2	2	2	0		0	0	46		46	46	1	1.990000	-20.000000	1	0.360000	NM_016540			38	38		135	134	1		1			0	0	46	0		1.000000	0	0	0	0	0	0	38	135
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								Untested	Somatic	Phase_I	WXS	none			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|ALG9_ENST00000527377.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.F63F|C11orf1_ENST00000528125.1_5'Flank|C11orf1_ENST00000529270.1_5'Flank|FDXACB1_ENST00000542429.1_Intron|C11orf1_ENST00000530214.1_5'Flank	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)																										ENST00000260257.4	1.000000	0.080000	1.000000	0.170000	0.330000	0.437134	0.330000	0.250000																										0				19						c.(187-189)ttC>ttT		ferredoxin-fold anticodon binding domain containing 1							35.0	34.0	35.0					11																	111749420		1922	4123	6045	SO:0001819	synonymous_variant	91893	1	120856	22				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	chr11.hg19:g.111749420G>A		1		OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000530214.1_5'Flank|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron|C11orf1_ENST00000529270.1_5'Flank	p.F63F	NM_138378.2	NP_612387.1	1	2	3	2.285822	Q9BRP7	FDXA1_HUMAN		2	236	-			A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	0	1	hg19	c.189C>T	CCDS44729.1	0																																																																																								0.437016		TCGA-IB-7652-01A-11D-2154-08	0.458	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	0	0	0		2	2	2	0		0	0	45		45	45	1	1.990000	-6.198291	1	0.360000	NM_138378			3	3		73	73	0		1	0		0	0	45	0		0.812541	2.905908e-01	0	0	0	21	0	3	73
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.910000	1.000000	0.990000	0.990000	0.993728	0.990000	1.000000																										0				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	0	0					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	chr12.hg19:g.11338898G>A	ENSP00000334050:p.Leu216Phe	1						p.L216F	NM_181429.1	NP_852094.1	2	2	4	2.241829	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)	1	645	-			A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	1	1	hg19	c.646C>T	CCDS31747.1	1	.	.	.	.	.	.	.	.	.	.	G	6.563	0.472116	0.12461	.	.	ENSG00000186136	ENST00000334266	T	0.00832	5.64	3.46	1.58	0.23477	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	0	TAS2R42	11230165	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	0.429793		TCGA-IB-7652-01A-11D-2154-08	0.418	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	1	0	1		2	2	2	0		0	0	92		92	91	1	1.990000	-20.000000	1	0.360000	NM_181429			83	82		384	383	1		1			0	0	92	0		1.000000	0	0	0	0	0	0	83	384
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								Untested	Somatic	Phase_I	WXS	none			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)	ENST00000331010.6	1.000000	0.740000	1.000000	0.860000	0.990000	0.952284	0.990000	1.000000																										1	Substitution - Missense(1)	p.R194P(1)	lung(1)	22						c.(580-582)cGa>cAa		neurotrophin 3							56.0	55.0	56.0					12																	5603961		2203	4300	6503	SO:0001583	missense	4908	0	0					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	chr12.hg19:g.5603961G>A	ENSP00000328738:p.Arg194Gln	1					NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R207Q	p.R194Q	NM_002527.4	NP_002518.1	2	2	4	2.241829	P20783	NTF3_HUMAN		1	664	+			B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	1	1	hg19	c.581G>A	CCDS8538.1	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	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	0	NTF3	5474222	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	0.429793		TCGA-IB-7652-01A-11D-2154-08	0.507	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1	1	0	1		2	2	2	0		0	0	114		114	112	1	1.990000	-19.999850	1	0.360000				47	47		254	251	1		1	0		0	0	114	0		1.000000	3.072200e-01	0	0	0	7	0	47	254
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	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			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_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_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)	ENST00000256078.4	1.000000	0.280000	1.000000	0.420000	0.620000	0.671172	0.620000	1.000000	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			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	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)	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	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398285C>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	chr12.hg19:g.25398285C>G	ENSP00000256078:p.Gly12Arg	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	p.G12R	NM_033360.2	NP_203524.1	2	2	4	2.241829	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	97	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.34G>C	CCDS8703.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	KRAS	25289552	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	0.429793		TCGA-IB-7652-01A-11D-2154-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1		2	2	2	0		0	0	45		45	45	1	1.990000	-5.897826	1	0.360000	NM_033360			8	8		85	84	0		1	1	1	0	0	45	403		0.989988	9.788113e-01	9.999997e-01	31	69	45	457	8	85
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	C	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			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	1.000000	0.990000	1.000000	0.990000	0.990000	0.997890	0.990000	1.000000																										0				12						c.(787-789)Gat>Cat		growth differentiation factor 11							50.0	34.0	39.0					12																	56142711		2203	4300	6503	SO:0001583	missense	10220	0	0					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	chr12.hg19:g.56142711G>C	ENSP00000257868:p.Asp263His	1						p.D263H	NM_005811.3	NP_005802.1	0	2	2	1.857793	O95390	GDF11_HUMAN		2	824	+			Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	1	1	hg19	c.787G>C	CCDS8891.1	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	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	0|2	GDF11|GDF11	54428978|54428978	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	0.360000		TCGA-IB-7652-01A-11D-2154-08	0.622	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3	1	0	1		2	2	2	0		0	0	52		52	52	1	1.990000	-20.000000	1	0.360000				20	20		55	55	1		1	0		0	0	52	0		0.999999	9.990535e-01	0	1	0	35	0	20	55
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	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.670000	1.000000	0.800000	0.940000	0.917059	0.940000	1.000000																										0				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	0	0					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	chr13.hg19:g.33253063A>T	ENSP00000313851:p.Thr352Ser	0						p.T352S	NM_015032.3	NP_055847.1	1	2	3	2.096311	Q9NTI5	PDS5B_HUMAN		10	1240	+		Lung SC(185;0.0367)	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	1	1	hg19	c.1054A>T	CCDS41878.1	1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770135	0.90108	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.67523	-0.27	5.49	5.49	0.81192	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	0	PDS5B	32151063	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	0.375732		TCGA-IB-7652-01A-11D-2154-08	0.368	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	1	0	1		2	2	2	0		0	0	76		76	76	1	1.990000	-20.000000	1	0.360000	NM_015032			36	36		185	184	1		1	1		0	0	76	0		1.000000	9.996982e-01	0	5	0	62	0	36	185
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	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.840000	1.000000	0.910000	0.990000	0.970807	0.990000	1.000000																										0				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	1	120812	36				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	chr13.hg19:g.33332728A>G		0						p.T1082T	NM_015032.3	NP_055847.1	1	2	3	2.096311	Q9NTI5	PDS5B_HUMAN		28	3432	+		Lung SC(185;0.0367)	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	1	1	hg19	c.3246A>G	CCDS41878.1	1																																																																																								0.375732		TCGA-IB-7652-01A-11D-2154-08	0.358	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	1	0	1		2	2	2	0		0	0	202		202	198	1	1.990000	-20.000000	1	0.360000	NM_015032			122	122		575	568	1		1	1		0	0	202	0		1.000000	9.999859e-01	0	12	0	64	0	122	575
AKAP6	9472	broad.mit.edu	37	14	33291794	33291794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:33291794G>A	ENST00000280979.4	+	13	4945	c.4775G>A	c.(4774-4776)cGa>cAa	p.R1592Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1592	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCCTCCAGCGAAGCACTTCT	0.433																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4	1.000000	0.890000	1.000000	0.970000	0.990000	0.988767	0.990000	1.000000																										0				122						c.(4774-4776)cGa>cAa		A kinase (PRKA) anchor protein 6							75.0	78.0	77.0					14																	33291794		2203	4299	6502	SO:0001583	missense	9472	5	121406	38				g.chr14:33291794G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4775G>A	chr14.hg19:g.33291794G>A	ENSP00000280979:p.Arg1592Gln	0					AKAP6_ENST00000557272.1_Intron	p.R1592Q	NM_004274.4	NP_004265.3	1	2	3	2.005040	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	13	4945	+	Breast(36;0.0388)|Prostate(35;0.15)		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	1	0	hg19	c.4775G>A	CCDS9644.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344158	0.82022	.	.	ENSG00000151320	ENST00000280979	T	0.15834	2.39	5.98	5.98	0.97165	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.25779	-1.0122	10	0.87932	D	0	-9.1931	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1592	Q13023	AKAP6_HUMAN	Q	1592	ENSP00000280979:R1592Q	ENSP00000280979:R1592Q	R	+	2	0	0	AKAP6	32361545	32361545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.335000	0.79234	2.843000	0.97960	0.650000	0.86243	CGA	0.361150		TCGA-IB-7652-01A-11D-2154-08	0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	0	0	1		13	2	2	2		2	1	196		196	194	1	1.990000	-20.000000	1	0.360000	NM_004274			126	126		536	532	1		1	0		2	0	196	0		1.000000	3.681493e-02	0	0	0	2	0	126	536
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	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.180000	0.770000	0.310000	0.510000	0.541594	0.510000	1.000000																									ERO1L/FERMT2(2)	0				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	0	0					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	chr14.hg19:g.53110325A>T	ENSP00000379042:p.Leu457*	0					RP11-841O20.2_ENST00000554055.1_RNA	p.L457*	NM_014584.1	NP_055399.1	1	2	3	2.005040	Q96HE7	ERO1A_HUMAN		16	1593	-	Breast(41;0.226)		A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Nonsense_Mutation	SNP	ENST00000395686.3	0	1	hg19	c.1370T>A	CCDS9709.1	0	.	.	.	.	.	.	.	.	.	.	A	38	7.030927	0.98013	.	.	ENSG00000197930	ENST00000395686	.	.	.	5.54	5.54	0.83059	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	0	ERO1L	52180075	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	0.361150		TCGA-IB-7652-01A-11D-2154-08	0.303	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	0	0	1		2	2	2	0		0	0	22		22	21	1	1.990000	-9.338282	1	0.360000	NM_014584			4	4		43	43	1		1	1		0	0	22	0		0.893282	9.999921e-01	0	201	0	435	0	4	43
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	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.750000	1.000000	0.820000	0.900000	0.908312	0.900000	1.000000																										0				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	0	0					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	chr14.hg19:g.59789651T>G	ENSP00000378557:p.Ile161Ser	0					DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S|DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S	p.I161S	NM_014992.2	NP_055807.1	1	2	3	2.005040	Q9Y4D1	DAAM1_HUMAN		5	505	+			Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	1	1	hg19	c.482T>G	CCDS9737.1	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	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	0	DAAM1	58859404	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	0.361150		TCGA-IB-7652-01A-11D-2154-08	0.418	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	0	0	1		2	2	2	0		0	0	189		189	188	1	1.990000	-20.000000	1	0.360000	NM_014992			99	99		505	500	1		1	1		0	0	189	0		1.000000	9.997456e-01	0	21	0	42	0	99	505
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.720000	1.000000	0.800000	0.900000	0.900107	0.900000	1.000000																										0				31						c.(136-138)cTt>cGt		adenylate kinase 7							99.0	100.0	100.0					14																	96864443		2203	4300	6503	SO:0001583	missense	122481	0	0					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	chr14.hg19:g.96864443T>G	ENSP00000267584:p.Leu46Arg	1					AK7_ENST00000555570.1_Missense_Mutation_p.L46R	p.L46R	NM_152327.3	NP_689540.2	1	2	3	2.330571	Q96M32	KAD7_HUMAN		2	181	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	1	1	hg19	c.137T>G	CCDS9945.1	1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934844	0.52866	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.59906	0.23	5.35	5.35	0.76521	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	0	AK7	95934196	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	0.454297		TCGA-IB-7652-01A-11D-2154-08	0.418	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	1	0	1		2	2	2	0		0	0	178		178	174	1	1.990000	-20.000000	1	0.360000				78	77		487	483	1		1	1		0	0	178	0		1.000000	9.655152e-01	0	13	0	23	0	78	487
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	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000426485.1_Missense_Mutation_p.K151N|HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N	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	1.000000	0.860000	1.000000	0.940000	0.990000	0.980709	0.990000	1.000000																										0				9						c.(451-453)aaG>aaT		homer homolog 2 (Drosophila)							159.0	163.0	162.0					15																	83527855		2007	4158	6165	SO:0001583	missense	9455	0	0					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	chr15.hg19:g.83527855C>A	ENSP00000305632:p.Lys151Asn	1					HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N	p.K151N	NM_199330.2	NP_955362.1	1	2	3	2.394756	Q9NSB8	HOME2_HUMAN		5	645	-			O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	1	1	hg19	c.453G>T	CCDS45334.1	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	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	2	HOMER2	81324909	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.498	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1	1	0	1		2	2	2	0		0	0	251		251	247	1	1.990000	-20.000000	1	0.360000				134	133		721	711	1		1	1		0	0	251	0		1.000000	1	0	16	0	191	0	134	721
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								Untested	Somatic	Phase_I	WXS	none			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-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P|AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1-AS1_ENST00000566878.1_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	0.390000	0.110000	0.310000	0.160000	0.220000	0.241013	0.220000	0.210000																										0				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	0	0					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	chr15.hg19:g.86838550T>C	ENSP00000413001:p.Leu716Pro	1					AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P	p.L716P	NM_152336.2	NP_689549.2	1	2	3	2.394756	Q96MI9	CBPC4_HUMAN		16	2242	+			A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	0	1	hg19	c.2147T>C	CCDS58398.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	AGBL1	84639554	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.483	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	0	0	1		2	2	2	0		0	0	121		121	120	1	1.990000	-11.319690	1	0.360000	NM_152336			10	10		286	284	0		1			0	0	121	0		0.996909	0	0	0	0	0	0	10	286
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	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000284395.5_Missense_Mutation_p.R212Q|LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q	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																																						ENST00000388948.3	1.000000	0.810000	1.000000	0.890000	0.980000	0.958141	0.980000	1.000000																										0				72						c.(643-645)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	1	120936	37				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	chr15.hg19:g.101529485G>A	ENSP00000373600:p.Arg215Gln	1					LRRK1_ENST00000284395.5_Missense_Mutation_p.R212Q|LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q	p.R215Q	NM_024652.3	NP_078928.3	1	2	3	2.394756			OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	6	1003	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)			Missense_Mutation	SNP	ENST00000388948.3	1	1	hg19	c.644G>A	CCDS42086.1	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	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	0	LRRK1	99347008	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.483	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	1		2	2	2	0		0	0	248		248	247	1	1.990000	-2.774986	1	0.360000	NM_024652			98	97		554	551	1		1	1		0	0	248	0		1.000000	9.931688e-01	0	7	0	38	0	98	554
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.450000	0.660000	0.500000	0.570000	0.600385	0.570000	0.570000																										0				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	1	121412	37				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	chr16.hg19:g.24372859G>A	ENSP00000005284:p.Arg208Gln	0						p.R208Q	NM_006539.3	NP_006530.1	1	2	3	2.050207	O60359	CCG3_HUMAN		4	1825	+				Missense_Mutation	SNP	ENST00000005284.3	1	1	hg19	c.623G>A	CCDS10620.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.189450	0.94923	.	.	ENSG00000006116	ENST00000005284	T	0.81163	-1.46	4.96	4.96	0.65561	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	0	CACNG3	24280360	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	0.367964		TCGA-IB-7652-01A-11D-2154-08	0.488	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	1	0	1		13	2	2	0		0	1	201		201	195	1	1.990000	-3.017764	1	0.360000	NM_006539			69	68		610	606	1		1			0	0	201	0		1.000000	0	0	0	0	0	0	69	610
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	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			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_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_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)	ENST00000269305.4	1.000000	0.810000	1.000000	0.910000	0.990000	0.968696	0.990000	1.000000	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	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		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)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	1	121412	41	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7578406C>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	chr17.hg19:g.7578406C>T	ENSP00000269305:p.Arg175His	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	0	1	1	1.717425	P04637	P53_HUMAN		5	713	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.524G>A	CCDS11118.1	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	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	0	TP53	7519131	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	0.236277		TCGA-IB-7652-01A-11D-2154-08	0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		9	7	2	1		1	1	117		117	114	1	1.990000	-4.108127	1	0.360000	NM_000546			51	51		164	161	1		1	1	1	1	0	117	906		1.000000	1	1	87	219	81	657	51	164
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000389840.5_Missense_Mutation_p.F2976L|DNAH17_ENST00000586052.1_5'UTR	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																																						ENST00000585328.1	1.000000	0.800000	1.000000	0.890000	0.960000	0.950506	0.960000	1.000000																										0				116						c.(8953-8955)Ttc>Ctc		dynein, axonemal, heavy chain 17							131.0	100.0	111.0					17																	76459132		2203	4300	6503	SO:0001583	missense	8632	0	0					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	chr17.hg19:g.76459132A>G	ENSP00000465516:p.Phe2985Leu	1					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.F2976L	p.F2985L	NM_173628.3	NP_775899.3	0	1	1	1.683774	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	57	9077	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	1	1	hg19	c.8953T>C		1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.688192	0.88639	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54071	0.59	4.91	4.91	0.64330	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	0	DNAH17	73970727	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	0.222924		TCGA-IB-7652-01A-11D-2154-08	0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	64		64	63	1	1.990000	-20.000000	1	0.360000	NM_173628			46	46		133	132	1		1	0		0	0	64	0		1.000000	0	0	0	0	1	0	46	133
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								Untested	Somatic	Phase_I	WXS	none			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					ENST00000585328.1	0.520000	0.160000	0.420000	0.220000	0.310000	0.327691	0.310000	0.300000																										0				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	17	121024	43				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	chr17.hg19:g.76571032G>A		1					DNAH17_ENST00000389840.5_Silent_p.N36N	p.N36N	NM_173628.3	NP_775899.3	0	1	1	1.683774	Q9UFH2	DYH17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)	2	232	-			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	1	1	hg19	c.108C>T		0																																																																																								0.222924		TCGA-IB-7652-01A-11D-2154-08	0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1		2	2	2	0		0	0	87		87	87	1	1.990000	-3.078173	1	0.360000	NM_173628			10	9		138	137	0		1			0	0	87	0		0.996995	0	0	0	0	0	0	10	138
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K|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	0.600000	0.300000	0.520000	0.360000	0.430000	0.448423	0.430000	0.440000				Dom	yes			Dom	yes		18	18q11.2	18q11.2	25925	T	zinc finger protein 521				L	L	PAX5		ALL		0				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	0	0					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	chr18.hg19:g.22805592C>T	ENSP00000354794:p.Glu764Lys	1					ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K	p.E764K	NM_015461.2	NP_056276.1	0	1	1	1.639204	Q96K83	ZN521_HUMAN		4	2438	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	1	1	hg19	c.2290G>A	CCDS32806.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	ZNF521	21059590	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	0.219512		TCGA-IB-7652-01A-11D-2154-08	0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1		2	2	2	0		0	0	98		98	97	1	1.990000	-3.221884	1	0.360000	NM_015461			28	27		261	260	0		1	0		0	0	98	0		1.000000	8.805710e-01	0	0	0	37	0	28	261
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.850000	1.000000	0.960000	0.990000	0.985237	0.990000	1.000000																										0				24						c.(424-426)Cgc>Tgc		galanin receptor 1							61.0	52.0	55.0					18																	74962928		2203	4299	6502	SO:0001583	missense	2587	0	0					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	chr18.hg19:g.74962928C>T	ENSP00000299727:p.Arg142Cys	0						p.R142C	NM_001480.3	NP_001471.2	0	0	0	1.961344	P47211	GALR1_HUMAN		1	424	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	1	1	hg19	c.424C>T	CCDS12012.1	1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897440	0.52121	.	.	ENSG00000166573	ENST00000299727	T	0.43294	0.95	4.49	4.49	0.54785	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	0	GALR1	73091916	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	0.345871		TCGA-IB-7652-01A-11D-2154-08	0.657	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1	1	0	1		2	2	2	0		0	0	102		102	100	1	1.990000	-20.000000	1	0.360000				54	54		212	211	1		1			0	0	102	0		1.000000	0	0	0	0	0	0	54	212
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.390000	1.000000	0.640000	0.980000	0.861715	0.980000	1.000000																										0				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	4	118176	26				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	chr19.hg19:g.10081324C>T	ENSP00000264828:p.Gly1304Ser	0						p.G1304S	NM_015719.3	NP_056534.2	1	2	3	2.079962	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)	54	3995	-			Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	0	1	hg19	c.3910G>A	CCDS12222.1	1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.851005	0.32699	.	.	ENSG00000080573	ENST00000264828	D	0.99607	-6.27	3.28	3.28	0.37604	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	0	COL5A3	9942324	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	0.373532		TCGA-IB-7652-01A-11D-2154-08	0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1		2	2	2	0		0	0	20		20	19	1	1.990000	-11.583800	1	0.360000	NM_015719			5	4		26	26	0		1	0		0	0	20	0		0.937878	7.303493e-01	0	0	0	15	0	5	26
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.710000	1.000000	0.950000	0.990000	0.972150	0.990000	1.000000																										0				42						c.(2680-2682)gaG>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)						6.0	7.0	7.0					19																	13409765		1767	3894	5661	SO:0001583	missense	773	0	0					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	chr19.hg19:g.13409765C>A	ENSP00000353362:p.Glu894Asp	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	1	2	3	2.079962	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	19	2681	-			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	1	1	hg19	c.2682G>T	CCDS45998.1	1	.	.	.	.	.	.	.	.	.	.	C	8.851	0.944677	0.18356	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	4.22	1.84	0.25277	4.22	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	2	CACNA1A	13270765	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	0.373532		TCGA-IB-7652-01A-11D-2154-08	0.771	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1		2	2	2	0		0	0	38		38	37	1	1.990000	-19.999990	1	0.360000	NM_000068			13	13		48	48	0		1	0		0	0	38	0		0.999734	0	0	0	0	1	0	13	48
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	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000301293.3_Silent_p.Y176Y|SEMA6B_ENST00000586965.1_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	1.000000	0.750000	1.000000	0.880000	0.990000	0.959431	0.990000	1.000000																										0				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	0	0					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	chr19.hg19:g.4555520G>A		0					SEMA6B_ENST00000301293.3_Silent_p.Y176Y|SEMA6B_ENST00000586965.1_Silent_p.Y176Y	p.Y176Y	NM_032108.3	NP_115484.2	1	2	3	2.085608	Q9H3T3	SEM6B_HUMAN		7	838	-		Hepatocellular(1079;0.137)	A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	1	1	hg19	c.528C>T	CCDS12131.1	1																																																																																								0.373532		TCGA-IB-7652-01A-11D-2154-08	0.602	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	1	0	1		2	2	2	0		0	0	123		123	121	1	1.990000	-20.000000	1	0.360000	NM_032108			39	39		178	178	1		1	0		0	0	123	0		1.000000	9.999966e-01	0	0	0	92	0	39	178
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	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			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					ENST00000607714.1	1.000000	0.120000	0.800000	0.250000	0.440000	0.506552	0.440000	0.360000																										1	Substitution - Missense(1)	p.R452H(1)	large_intestine(1)	14						c.(1045-1047)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	30	121346	37				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	chr19.hg19:g.39980444G>A	ENSP00000475531:p.Arg349His	0					TIMM50_ENST00000314349.4_Missense_Mutation_p.R452H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H|TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H	p.R349H			1	2	3	2.079962	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)	11	1068	+	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)		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	0	1	hg19	c.1046G>A		0	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	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	0	TIMM50	44672284	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	0.373532		TCGA-IB-7652-01A-11D-2154-08	0.617	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	1	0	1		2	2	2	0		0	0	21		21	21	1	1.990000	-4.600715	1	0.360000	NM_001001563			3	3		43	43	0		1	0		0	0	21	0		0.812613	9.939711e-01	0	0	0	189	0	3	43
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	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				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	0	0					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	chr1.hg19:g.12316444G>C	ENSP00000350854:p.Val242Leu	1					VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	p.V242L	NM_015378.2	NP_056193.2	0	4	4	2.454452				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)		Missense_Mutation	SNP	ENST00000358136.3	1	1	hg19	c.724G>C	CCDS30588.1	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	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	0	VPS13D	12239031	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	0.504491		TCGA-IB-7652-01A-11D-2154-08	0.542	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1		2	2	2	0		0	0	270		270	267	1	1.990000	-20.000000	1	0.360000	NM_015378			295	292		671	662	1		1	1		0	0	270	0		1.000000	9.997890e-01	0	10	0	21	0	295	671
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V|KCNA2_ENST00000525120.1_Intron			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	1.000000	0.780000	1.000000	0.840000	0.910000	0.919445	0.910000	1.000000																										0				32						c.(49-51)gGg>gTg		potassium voltage-gated channel, shaker-related subfamily, member 2	Dalfampridine(DB06637)						97.0	101.0	100.0					1																	111147355		2203	4300	6503	SO:0001583	missense	3737	0	0					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	chr1.hg19:g.111147355C>A	ENSP00000433109:p.Gly17Val	0					KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V	p.G17V			1	2	3	2.036830	P16389	KCNA2_HUMAN		3	723	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	1	1	hg19	c.50G>T	CCDS827.1	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	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	0	KCNA2	110948878	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	0.366838		TCGA-IB-7652-01A-11D-2154-08	0.597	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	1	0	1		2	2	2	0		0	0	396		396	386	1	1.990000	-3.319885	1	0.360000	NM_004974			150	147		768	757	1		1			0	0	396	0		1.000000	0	0	0	0	0	0	150	768
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_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	1.000000	0.080000	0.160000	0.100000	0.120000	0.196933	0.120000	0.130000																										0				424						c.(2365-2367)Cgt>Tgt		filaggrin							305.0	293.0	297.0					1																	152284997		2203	4300	6503	SO:0001583	missense	2312	3	121410	39	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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	chr1.hg19:g.152284997G>A	ENSP00000357789:p.Arg789Cys	0					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.R789C	NM_002016.1	NP_002007.1	1	2	3	2.070548	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)		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	1	1	hg19	c.2365C>T	CCDS30860.1	0	.	.	.	.	.	.	.	.	.	.	-	5.373	0.254012	0.10185	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.52	-0.503	0.12000	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	0	FLG	150551621	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	0.371316		TCGA-IB-7652-01A-11D-2154-08	0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	1		2	2	2	0		0	0	691		691	680	1	1.990000	-2.753389	1	0.360000	NM_002016			40	40		1793	1776	0		1	0		0	0	691	0		1.000000	0	0	0	0	1	0	40	1793
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	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*	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	1.000000	0.840000	1.000000	0.940000	0.990000	0.979895	0.990000	1.000000																										0				27						c.(1480-1482)Cga>Tga		flavin containing monooxygenase 1	Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)						101.0	96.0	98.0					1																	171254564		2203	4300	6503	SO:0001587	stop_gained	2326	0	0					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	chr1.hg19:g.171254564C>T	ENSP00000346901:p.Arg494*	0					FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*	p.R494*	NM_001282692.1	NP_001269621.1	1	2	3	2.029486	Q01740	FMO1_HUMAN		8	1611	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Nonsense_Mutation	SNP	ENST00000354841.4	0	1	hg19	c.1480C>T	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.316156	0.97467	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	5.61	4.7	0.59300	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	2	FMO1	169521188	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	0.365709		TCGA-IB-7652-01A-11D-2154-08	0.478	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	1	0	1		2	2	2	0		0	0	92		92	92	1	1.990000	-2.852775	1	0.360000	NM_002021			78	78		339	338	1		1	0		0	0	92	0		1.000000	9.989949e-01	0	0	0	47	0	78	339
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.790000	1.000000	0.870000	0.940000	0.941168	0.940000	1.000000																										0				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	0	0					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	chr1.hg19:g.197071382C>T		0					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.E2333E	NM_018136.4	NP_060606.3	1	2	3	2.011309	Q8IZT6	ASPM_HUMAN		18	7255	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	1	1	hg19	c.6999G>A	CCDS1389.1	1																																																																																								0.361150		TCGA-IB-7652-01A-11D-2154-08	0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	1		2	2	2	0		0	0	195		195	192	1	1.990000	-20.000000	1	0.360000	NM_018136			116	116		561	559	0		1	1		0	0	195	0		1.000000	4.743704e-01	0	2	0	7	0	116	561
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000373381.4_Missense_Mutation_p.R2219H|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR			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					ENST00000373380.1	0.980000	0.590000	0.910000	0.690000	0.800000	0.804804	0.800000	0.810000																										0				246						c.(3274-3276)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	40	121412	46				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	chr1.hg19:g.34068023C>T	ENSP00000362478:p.Arg1092His	1					CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000373381.4_Missense_Mutation_p.R2219H|CSMD2_ENST00000489419.1_5'UTR	p.R1092H			0	1	1	1.703950	Q7Z408	CSMD2_HUMAN		22	3495	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	1	1	hg19	c.3275G>A		0	.	.	.	.	.	.	.	.	.	.	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	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	0	CSMD2	33840610	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	0.219512		TCGA-IB-7652-01A-11D-2154-08	0.577	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	1	0	1		2	2	2	0		0	0	183		183	182	1	1.990000	-19.998740	1	0.360000	NM_052896			39	38		177	174	1		1	0		0	0	183	0		1.000000	0	0	0	0	1	0	39	177
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:52740258T>C	ENST00000371591.1	+	7	2877		c.e7+2		ZFYVE9_ENST00000287727.3_Splice_Site|ZFYVE9_ENST00000357206.2_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																																						ENST00000371591.1	1.000000	0.860000	1.000000	0.960000	0.990000	0.984885	0.990000	1.000000																										0				53						c.e7+2		zinc finger, FYVE domain containing 9							122.0	109.0	113.0					1																	52740258		2203	4300	6503	SO:0001630	splice_region_variant	9372	0	0					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	chr1.hg19:g.52740258T>C		0					ZFYVE9_ENST00000287727.3_Splice_Site|ZFYVE9_ENST00000357206.2_Splice_Site		NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	1	2	3	2.087080	O95405	ZFYV9_HUMAN		7	2877	+			Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Splice_Site	SNP	ENST00000371591.1	1	1	hg19		CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598319	0.46318	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	.	.	.	5.27	4.13	0.48395	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	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	.	0.410898		TCGA-IB-7652-01A-11D-2154-08	0.398	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	1	0	1		2	2	2	0		0	0	140		140	137	1	1.990000	-20.000000	1	0.360000	NM_007324	Intron		84	82		400	399	1		1			0	0	140	0		1.000000	0	0	0	0	0	0	84	400
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	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.990000	1.000000	0.990000	0.990000	0.999471	0.990000	1.000000																										0				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	0	0					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	chr1.hg19:g.233394271G>C	ENSP00000258229:p.Pro446Arg	0					PCNXL2_ENST00000430153.1_5'UTR	p.P446R	NM_014801.3	NP_055616.3	0	0	0	1.987797	A6NKB5	PCX2_HUMAN		5	1571	-		all_cancers(173;0.0347)|Prostate(94;0.137)	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	1	1	hg19	c.1337C>G	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439400	0.25900	.	.	ENSG00000135749	ENST00000258229	T	0.08458	3.09	4.82	4.82	0.62117	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	0	PCNXL2	231460894	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	0.355359		TCGA-IB-7652-01A-11D-2154-08	0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1		2	2	2	0		0	0	211		211	209	1	1.990000	-3.658720	1	0.360000	NM_014801			106	106		376	371	1		1	1		0	0	211	0		1.000000	9.985190e-01	0	11	0	26	0	106	376
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	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000375852.2_Silent_p.R135R|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																																						ENST00000520553.1	1.000000	0.760000	1.000000	0.840000	0.920000	0.923653	0.920000	1.000000																										0				36						c.(340-342)cgC>cgT		HCK proto-oncogene, Src family tyrosine kinase	Bosutinib(DB06616)						100.0	96.0	98.0					20																	30662501		2203	4300	6503	SO:0001819	synonymous_variant	3055	0	0					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	chr20.hg19:g.30662501C>T		0					HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000534862.1_Silent_p.R115R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000538448.1_Silent_p.R114R	p.R114R	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	1	2	3	2.016887	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)	5	588	+			A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	1	1	hg19	c.342C>T	CCDS54455.1	1																																																																																								0.362296		TCGA-IB-7652-01A-11D-2154-08	0.552	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1	1	0	1		2	2	2	0		0	0	252		252	249	1	1.990000	-20.000000	1	0.360000				98	98		489	483	0		1	0		0	0	252	0		1.000000	1	0	1	0	134	0	98	489
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.810000	1.000000	0.950000	0.990000	0.980160	0.990000	1.000000																										0				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	0	0					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	chr22.hg19:g.17073061A>T	ENSP00000353048:p.Leu127Gln	0						p.L127Q	NM_014406.4	NP_055221.1	1	2	3	2.060051	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)	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	1	1	hg19	c.380T>A	CCDS13738.1	1	.	.	.	.	.	.	.	.	.	.	a	11.60	1.688445	0.29962	.	.	ENSG00000198445	ENST00000359963	T	0.80909	-1.43	2.0	2.0	0.26442	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	0	CCT8L2	15453061	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	0.370203		TCGA-IB-7652-01A-11D-2154-08	0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1	1	0	1		2	2	2	0		0	0	103		103	100	1	1.990000	-20.000000	1	0.360000				39	38		161	158	1		1			0	0	103	0		1.000000	0	0	0	0	0	0	39	161
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000342247.5_Missense_Mutation_p.R317H|CECR2_ENST00000400573.5_Intron|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	1.000000	0.390000	1.000000	0.590000	0.850000	0.814269	0.850000	1.000000																										0				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	4	120998	26				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	chr22.hg19:g.18003349G>A	ENSP00000262608:p.Arg346His	0					CECR2_ENST00000400585.2_Intron|CECR2_ENST00000400573.5_Intron|CECR2_ENST00000342247.5_Missense_Mutation_p.R317H	p.R346H	NM_031413.3	NP_113601.2	1	2	3	2.060051	Q9BXF3	CECR2_HUMAN		8	1037	+		all_epithelial(15;0.139)	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000262608.8	1	1	hg19	c.1037G>A		1	.	.	.	.	.	.	.	.	.	.	G	4.349	0.064200	0.08388	.	.	ENSG00000099954	ENST00000342247;ENST00000262608	T;T	0.25414	2.08;1.8	3.24	-6.48	0.01896	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	0	CECR2	16383349	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	0.370203		TCGA-IB-7652-01A-11D-2154-08	0.448	CECR2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	27		27	26	1	1.990000	-6.863299	1	0.360000	NM_031413			7	7		42	42	1		1			0	0	27	0		0.983355	0	0	0	0	0	0	7	42
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.050000	0.220000	0.090000	0.140000	0.210612	0.140000	0.130000																										0				19						c.(1279-1281)Gcc>Acc		apolipoprotein L, 5							68.0	62.0	64.0					22																	36124922		2203	4300	6503	SO:0001583	missense	80831	0	0					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	chr22.hg19:g.36124922G>A	ENSP00000249044:p.Ala427Thr	0						p.A427T	NM_030642.1	NP_085145.1	1	2	3	2.060051	Q9BWW9	APOL5_HUMAN		4	1279	+			Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	0	1	hg19	c.1279G>A	CCDS13920.1	0	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555711	0.65425	.	.	ENSG00000128313	ENST00000249044	T	0.05139	3.49	2.28	1.18	0.20946	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	0	APOL5	34454868	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	0.370203		TCGA-IB-7652-01A-11D-2154-08	0.612	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	0	0	0		2	2	2	0		0	0	102		102	98	1	1.990000	-7.534923	1	0.360000	NM_030642			7	7		293	287	0		1			0	0	102	0		0.979500	0	0	0	0	0	0	7	293
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.930000	1.000000	0.990000	0.990000	0.996057	0.990000	1.000000																										0				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	0	0					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	chr2.hg19:g.141641448T>A	ENSP00000374135:p.Arg1369Ser	1	TSP Lung(27;0.18)					p.R1369S	NM_018557.2	NP_061027.2	1	2	3	2.356307	Q9NZR2	LRP1B_HUMAN		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)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	1	1	hg19	c.4107A>T	CCDS2182.1	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	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	2	LRP1B	141357918	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.458	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1		2	2	2	0		0	0	202		202	200	1	1.990000	-20.000000	1	0.360000	NM_018557			113	113		548	546	1		1	0		0	0	202	0		1.000000	0	0	0	0	1	0	113	548
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								Untested	Somatic	Phase_I	WXS	none			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	SCN1A_ENST00000375405.3_Silent_p.I1771I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.I1754I|SCN1A_ENST00000423058.2_Silent_p.I1782I			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																																						ENST00000303395.4	1.000000	0.980000	1.000000	0.990000	0.990000	0.998902	0.990000	1.000000																										0				200						c.(5344-5346)atC>atT		sodium channel, voltage-gated, type I, alpha subunit	Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)						124.0	123.0	123.0					2																	166848439		2203	4297	6500	SO:0001819	synonymous_variant	6323	2	121412	36				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	chr2.hg19:g.166848439G>A		1					AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1754I|SCN1A_ENST00000423058.2_Silent_p.I1782I	p.I1782I			1	2	3	2.356307	P35498	SCN1A_HUMAN		26	5345	-			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	1	1	hg19	c.5346C>T	CCDS54413.1	1																																																																																								0.457627		TCGA-IB-7652-01A-11D-2154-08	0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	0	0	1		2	2	2	0		0	0	279		279	337	1	1.990000	-3.322969	1	0.360000	NM_006920			190	174		915	843	1		1			0	0	279	0		1.000000	0	0	0	0	0	0	190	915
MYO3B	140469	broad.mit.edu	37	2	171375968	171375968	+	Missense_Mutation	SNP	C	C	T	rs56052422	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:171375968C>T	ENST00000408978.4	+	30	3636	c.3493C>T	c.(3493-3495)Cgt>Tgt	p.R1165C	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.R1174C|MYO3B_ENST00000409044.3_Missense_Mutation_p.R1138C	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1165			R -> C (in dbSNP:rs56052422). {ECO:0000269|PubMed:17344846}.		peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCTGTACATCGTAGGAGCCA	0.468													C|||	130	0.0259585	0.0295	0.0058	5008	,	,		17543	0.0119		0.006	False		,,,				2504	0.0706					ENST00000408978.4	0.880000	0.420000	0.760000	0.520000	0.630000	0.647377	0.630000	0.630000																										0				59						c.(3493-3495)Cgt>Tgt		myosin IIIB		C	CYS/ARG,CYS/ARG,CYS/ARG	114,3722		2,110,1806	76.0	78.0	77.0		3412,3493,3493	3.8	0.0	2	dbSNP_129	77	39,8215		0,39,4088	yes	missense,missense,missense	MYO3B	NM_001083615.2,NM_001171642.1,NM_138995.3	180,180,180	2,149,5894	TT,TC,CC		0.4725,2.9718,1.2655	benign,benign,benign	1138/1315,1165/1276,1165/1342	171375968	153,11937	1918	4127	6045	SO:0001583	missense	140469	1766	120846	62				g.chr2:171375968C>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3493C>T	chr2.hg19:g.171375968C>T	ENSP00000386213:p.Arg1165Cys	1					MYO3B_ENST00000334231.6_Missense_Mutation_p.R1174C|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R1138C	p.R1165C	NM_138995.4	NP_620482.3	1	2	3	2.356307	Q8WXR4	MYO3B_HUMAN		30	3636	+			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	1	0	hg19	c.3493C>T	CCDS42773.1	0	32	0.014652014652014652	14	0.028455284552845527	3	0.008287292817679558	9	0.015734265734265736	6	0.0079155672823219	C	12.17	1.856140	0.32791	0.029718	0.004725	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000334231	T;T;T	0.78707	-1.2;-1.16;-1.16	3.82	3.82	0.43975	3.82	3.82	0.43975	.	1.065760	0.07515	U	0.909616	T	0.37433	0.1003	N	0.08118	0	0.09310	N	1	P;P;P	0.49358	0.923;0.825;0.733	B;B;B	0.40101	0.319;0.121;0.083	T	0.49597	-0.8923	10	0.66056	D	0.02	.	11.3838	0.49773	0.0:1.0:0.0:0.0	rs56052422	1165;1138;1165	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	C	1138;1165;1164;1174	ENSP00000386497:R1138C;ENSP00000386213:R1165C;ENSP00000335100:R1174C	ENSP00000314213:R1164C	R	+	1	0	0	MYO3B	171084214	171084214	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.016000	0.13377	2.120000	0.65058	0.446000	0.29264	CGT	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.468	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	0	0	1		2	2	2	0		0	0	82		82	81	1	1.990000	-3.017737	1	0.360000				25	25		235	233	1		1	0		0	0	82	0		1.000000	1.011061e-02	0	0	0	2	0	25	235
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								Untested	Somatic	Phase_I	WXS	none			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	0.480000	0.310000	0.440000	0.340000	0.390000	0.397439	0.390000	0.400000																										0				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	0	0					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	chr2.hg19:g.197208385C>G	ENSP00000260983:p.Met132Ile	0					HECW2_ENST00000409111.1_5'UTR	p.M132I	NM_020760.1	NP_065811.1	0	0	0	1.973393	Q9P2P5	HECW2_HUMAN		3	578	-			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	1	1	hg19	c.396G>C	CCDS33354.1	0	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953035	0.53293	.	.	ENSG00000138411	ENST00000260983;ENST00000452031	T	0.31247	1.5	6.06	6.06	0.98353	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	0	HECW2	196916630	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	0.348269		TCGA-IB-7652-01A-11D-2154-08	0.358	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1		2	2	2	0		0	0	346		346	340	1	1.990000	-14.217010	1	0.360000	NM_020760			80	78		1028	1020	0		1	0		0	0	346	0		1.000000	2.714016e-01	0	0	0	14	0	80	1028
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								Untested	Somatic	Phase_I	WXS	none			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	0.380000	0.070000	0.270000	0.110000	0.180000	0.201584	0.180000	0.170000																										0				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	0	0					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	chr2.hg19:g.239342283C>G	ENSP00000264607:p.Tyr46*	1					ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*|ASB1_ENST00000469885.1_3'UTR	p.Y46*	NM_001040445.1	NP_001035535.1	1	2	3	2.316627	Q9Y576	ASB1_HUMAN		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)	A6NL50|Q4ZG29|Q9ULS4	Nonsense_Mutation	SNP	ENST00000264607.4	0	1	hg19	c.138C>G	CCDS33416.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.436599	0.96168	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	.	.	.	5.49	0.519	0.17035	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	2	ASB1	239007022	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	0.455967		TCGA-IB-7652-01A-11D-2154-08	0.597	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	0	0	1		2	2	2	0		0	0	85		85	84	1	1.990000	-7.381409	1	0.360000	NM_001040445			6	6		227	222	0		1	0		0	0	85	0		0.963155	3.184728e-01	0	0	0	39	0	6	227
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.990000	1.000000	0.990000	0.990000	0.998848	0.990000	1.000000																										0				38						c.(2602-2604)Gag>Cag		KIAA1524							100.0	91.0	94.0					3																	108270112		2203	4300	6503	SO:0001583	missense	57650	0	0					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	chr3.hg19:g.108270112C>G	ENSP00000295746:p.Glu868Gln	0					KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	p.E868Q	NM_020890.2	NP_065941.2	0	0	0	1.994361	Q8TCG1	CIP2A_HUMAN		21	2678	-			A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	1	1	hg19	c.2602G>C	CCDS33812.1	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	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	0	KIAA1524	109752802	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	0.357688		TCGA-IB-7652-01A-11D-2154-08	0.418	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	1	0	1		2	2	2	0		0	0	81		81	79	1	1.990000	-4.399536	1	0.360000	NM_020890			45	45		143	142	1		1	1		0	0	81	0		1.000000	9.770954e-01	0	6	0	16	0	45	143
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.230000	0.520000	0.300000	0.400000	0.432400	0.400000	0.390000																										0				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	0	0					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	chr3.hg19:g.132209833G>T	ENSP00000260818:p.Lys1187Asn	0						p.K1187N	NM_015268.3	NP_056083.3	1	2	3	2.033691	O75165	DJC13_HUMAN		32	3809	+			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	1	1	hg19	c.3561G>T	CCDS33857.1	0	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367442	0.61513	.	.	ENSG00000138246	ENST00000260818	T	0.19669	2.13	5.13	3.06	0.35304	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	2	DNAJC13	133692523	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	0.365709		TCGA-IB-7652-01A-11D-2154-08	0.323	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	1	0	1		2	2	2	0		0	0	91		91	90	1	1.990000	-19.503150	1	0.360000	NM_015268			15	15		200	199	1		1	1		0	0	91	0		0.999881	8.936727e-01	0	9	0	46	0	15	200
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.720000	1.000000	0.810000	0.910000	0.911537	0.910000	1.000000																										0				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	1	121412	34				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	chr3.hg19:g.137849964G>C		0						p.L45L	NM_016161.2	NP_057245.1	1	2	3	2.033691	Q9UNA3	A4GCT_HUMAN		2	336	-			Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	1	1	hg19	c.135C>G	CCDS3097.1	1																																																																																								0.365709		TCGA-IB-7652-01A-11D-2154-08	0.537	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	1	0	1		2	2	2	0		0	0	120		120	118	1	1.990000	-20.000000	1	0.360000	NM_016161			68	68		348	345	1		1	0		0	0	120	0		1.000000	7.299940e-01	0	0	0	15	0	68	348
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	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000357272.4_Missense_Mutation_p.E1033K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K	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																																						ENST00000295956.4	1.000000	0.840000	1.000000	0.920000	0.990000	0.973170	0.990000	1.000000																										0				120						c.(3097-3099)Gag>Aag		filamin B, beta							100.0	106.0	104.0					3																	58107201		2203	4300	6503	SO:0001583	missense	2317	0	0					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	chr3.hg19:g.58107201G>A	ENSP00000295956:p.Glu1033Lys	0					FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000357272.4_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K	p.E1033K	NM_001457.3	NP_001448.2	0	0	0	1.994361	O75369	FLNB_HUMAN		20	3262	+			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	1	1	hg19	c.3097G>A	CCDS2885.1	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	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	0	FLNB	58082241	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	0.357688		TCGA-IB-7652-01A-11D-2154-08	0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	1	0	1		2	2	2	0		0	0	302		302	294	1	1.990000	-20.000000	1	0.360000	NM_001457			120	118		537	535	1		1	1		0	0	302	0		1.000000	1	0	207	0	239	0	120	537
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	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*	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																																						ENST00000295956.4	0.750000	0.240000	0.610000	0.340000	0.460000	0.481896	0.460000	0.450000																										0				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	0	0					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	chr3.hg19:g.58134060T>A	ENSP00000295956:p.Cys1952*	0					FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*	p.C1952*	NM_001457.3	NP_001448.2	0	0	0	1.994361	O75369	FLNB_HUMAN		35	6021	+			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	ENST00000295956.4	0	1	hg19	c.5856T>A	CCDS2885.1	0	.	.	.	.	.	.	.	.	.	.	T	46	12.749215	0.99693	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	6.17	-0.893	0.10567	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	2	FLNB	58109100	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	0.357688		TCGA-IB-7652-01A-11D-2154-08	0.602	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	1	0	1		2	2	2	0		0	0	51		51	51	1	1.990000	-16.723850	1	0.360000	NM_001457			11	11		123	122	0		1	1		0	0	51	0		0.998501	9.999999e-01	0	19	0	447	0	11	123
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.R464R	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	0.140000	0.040000	0.120000	0.060000	0.080000	0.093730	0.080000	0.090000																										0				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	0	0					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	chr3.hg19:g.195517059C>A		1					MUC4_ENST00000475231.1_Silent_p.R464R|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.R464R	NM_018406.6	NP_060876.5	0	1	1	1.665638	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)	2	1851	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	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	0	1	hg19	c.1392G>T	CCDS54700.1	0																																																																																								0.219512		TCGA-IB-7652-01A-11D-2154-08	0.493	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	0	0	1		2	2	2	0		0	0	360		360	357	1	1.990000	-2.560979	1	0.360000	NM_018406			15	15		757	751	0		1			0	0	360	0		0.999863	0	0	0	0	0	0	15	757
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								Untested	Somatic	Phase_I	WXS	none			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	0.210000	0.040000	0.160000	0.070000	0.110000	0.122536	0.110000	0.110000																										0				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	0	0					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	chr4.hg19:g.126371342C>G	ENSP00000377862:p.Ile3057Met	0					FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	p.I3057M	NM_024582.4	NP_078858.4	1	2	3	2.006995	Q6V0I7	FAT4_HUMAN		9	9184	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	0	1	hg19	c.9171C>G	CCDS3732.3	0	.	.	.	.	.	.	.	.	.	.	C	2.000	-0.429562	0.04701	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.55760	0.5;1.95	5.53	3.77	0.43336	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	3	FAT4	126590792	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	0.361150		TCGA-IB-7652-01A-11D-2154-08	0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	1		2	2	2	0		0	0	127		127	127	1	1.990000	-3.997423	1	0.360000	NM_024582			8	8		397	396	0		1	0		0	0	127	0		0.989422	5.662453e-02	0	0	0	17	0	8	397
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	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000508091.1_Intron	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	1.000000	0.650000	1.000000	0.800000	0.970000	0.922508	0.970000	1.000000																										0				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	0	0					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	chr4.hg19:g.71691088T>C	ENSP00000254799:p.Thr440Ala	0					GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A	p.T440A	NM_002092.3	NP_002083	1	2	3	2.006995	Q12849	GRSF1_HUMAN	Lung(101;0.235)	8	1435	-		all_hematologic(202;0.21)	B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	1	1	hg19	c.1318A>G	CCDS47069.1	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	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	0	GRSF1	71909952	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	0.361150		TCGA-IB-7652-01A-11D-2154-08	0.488	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	0	0	1		10	26	2	1		1	1	51		51	50	1	1.990000	-15.100990	1	0.360000	NM_002092			23	23		108	107	1		1	1		1	0	51	0		0.995220	9.999837e-01	0	97	0	359	0	23	108
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	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000436978.1_Silent_p.P1337P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P|PTPN13_ENST00000316707.6_Silent_p.P1146P			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																																						ENST00000411767.2	1.000000	0.760000	1.000000	0.840000	0.930000	0.926182	0.930000	1.000000																										0				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	5783	0	0					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	chr4.hg19:g.87684337A>T		0					PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000436978.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P	p.P1337P			1	2	3	2.006995	Q12923	PTN13_HUMAN		24	4074	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	1	1	hg19	c.4011A>T	CCDS47094.1	1																																																																																								0.361150		TCGA-IB-7652-01A-11D-2154-08	0.363	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	1	0	1		2	2	2	0		0	0	221		221	220	1	1.990000	-20.000000	1	0.360000				94	94		465	463	1		1	0		0	0	221	0		1.000000	9.950115e-01	0	0	0	42	0	94	465
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.730000	1.000000	0.820000	0.910000	0.908113	0.910000	1.000000																										0				136						c.(1576-1578)Tac>Gac		protocadherin 10							64.0	69.0	67.0					4																	134072871		2200	4293	6493	SO:0001583	missense	57575	0	0					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	chr4.hg19:g.134072871T>G	ENSP00000264360:p.Tyr526Asp	0					RP11-9G1.3_ENST00000505289.1_lincRNA	p.Y526D	NM_032961.1	NP_116586.1	1	2	3	2.006995	Q9P2E7	PCD10_HUMAN		1	2402	+			Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	1	1	hg19	c.1576T>G	CCDS34063.1	1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427385	0.62733	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51574	0.7	4.51	4.51	0.55191	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	0	PCDH10	134292321	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	0.361150		TCGA-IB-7652-01A-11D-2154-08	0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1		2	2	2	0		0	0	176		176	172	1	1.990000	-20.000000	1	0.360000	NM_032961			80	79		407	404	1		1	0		0	0	176	0		1.000000	7.378839e-02	0	0	0	3	0	80	407
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	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			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_ENST00000334602.6_Missense_Mutation_p.P1058Q|TERT_ENST00000296820.5_3'UTR	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	1.000000	0.680000	1.000000	0.870000	0.990000	0.954283	0.990000	1.000000																										0				41						c.(3361-3363)cCg>cAg		telomerase reverse transcriptase	Zidovudine(DB00495)						21.0	29.0	27.0					5																	1253880		2170	4259	6429	SO:0001583	missense	7015	0	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	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	chr5.hg19:g.1253880G>T	ENSP00000309572:p.Pro1121Gln	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	0	0	0	1.992041	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)		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	1	1	hg19	c.3362C>A	CCDS3861.2	1	.	.	.	.	.	.	.	.	.	.	g	16.53	3.147750	0.57151	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.97870	-4.58;-4.31	3.83	3.83	0.44106	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	0	TERT	1306880	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	0.357688		TCGA-IB-7652-01A-11D-2154-08	0.662	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	1	0	1		2	2	7	0		0	0	40		40	39	1	1.990000	-3.126970	1	0.360000				17	17		69	69	1		1		1	0	1	40	1002		0.999982	0	1	0	222	0	1124	17	69
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y			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	0.960000	0.530000	0.870000	0.630000	0.740000	0.755245	0.740000	0.750000																										1	Substitution - Missense(1)	p.C506S(1)	lung(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	0	0					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	chr5.hg19:g.101748803C>T	ENSP00000421339:p.Cys506Tyr	1					SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y	p.C506Y			0	1	1	1.626977	Q86UG4	SO6A1_HUMAN		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)	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	1	1	hg19	c.1517G>A	CCDS34206.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	SLCO6A1	101776702	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	0.219512		TCGA-IB-7652-01A-11D-2154-08	0.333	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	1	0	1		9	2	2	0		0	1	90		90	89	1	1.990000	-18.282950	1	0.360000	NM_173488			32	32		159	159	1		1			0	0	90	0		0.999975	0	0	0	0	0	0	32	159
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.970000	1.000000	0.990000	0.990000	0.997877	0.990000	1.000000																										0				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	0	0					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	chr5.hg19:g.132535363G>A		1					CTB-49A3.2_ENST00000509051.1_RNA	p.H651H	NM_015082.1	NP_055897.1	1	2	3	2.393020	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	16	2202	-		all_cancers(142;0.244)	Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	1	1	hg19	c.1953C>T	CCDS34238.1	1																																																																																								0.457627		TCGA-IB-7652-01A-11D-2154-08	0.622	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	1	0	1		2	2	2	0		0	0	83		83	81	1	1.990000	-20.000000	1	0.360000	XM_048786			38	38		151	146	0		1	0		0	0	83	0		1.000000	3.547850e-01	0	1	0	5	0	38	151
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	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.710000	0.980000	0.790000	0.880000	0.888497	0.880000	1.000000																										0				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	0	0					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	chr5.hg19:g.137803753A>G	ENSP00000239938:p.Thr539Ala	1						p.T539A	NM_001964.2	NP_001955.1	1	2	3	2.393020	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)	2	1887	+				Missense_Mutation	SNP	ENST00000239938.4	1	1	hg19	c.1615A>G	CCDS4206.1	1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461456	0.43736	.	.	ENSG00000120738	ENST00000411801;ENST00000239938	T	0.10960	2.82	4.24	4.24	0.50183	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	0	EGR1	137831652	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.502	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	1	0	1		2	2	2	0		0	0	183		183	182	1	1.990000	-20.000000	1	0.360000	NM_001964			80	80		510	501	1		1	1		0	0	183	0		1.000000	1	0	430	0	1842	0	80	510
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								Untested	Somatic	Phase_I	WXS	none			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	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	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	1.000000	0.710000	1.000000	0.810000	0.910000	0.911249	0.910000	1.000000																										0				78						c.(1507-1509)gCg>gTg		protocadherin alpha 4							55.0	56.0	56.0					5																	140188280		2203	4300	6503	SO:0001583	missense	56144	0	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	chr5.hg19:g.140188280C>T	ENSP00000435300:p.Ala503Val	1					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA1_ENST00000394633.3_Intron	p.A503V	NM_018907.2	NP_061730.1	1	2	3	2.393020	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1508	+			O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	1	1	hg19	c.1508C>T	CCDS54916.1	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	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	0	PCDHA4	140168464	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	1	0	1		2	2	2	0		0	0	193		193	190	1	1.990000	-20.000000	1	0.360000	NM_018907			60	59		367	360	1		1	0		0	0	193	0		1.000000	3.180636e-01	0	0	0	8	0	60	367
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								Untested	Somatic	Phase_I	WXS	none			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	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_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	1.000000	0.780000	1.000000	0.870000	0.960000	0.947086	0.960000	1.000000																										0				63						c.(1366-1368)Gcg>Acg		protocadherin alpha 7							56.0	60.0	59.0					5																	140215334		2203	4299	6502	SO:0001583	missense	56141	0	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	chr5.hg19:g.140215334G>A	ENSP00000436426:p.Ala456Thr	1					PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.A456T	NM_018910.2	NP_061733.1	1	2	3	2.393020	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1366	+			O75282	Missense_Mutation	SNP	ENST00000525929.1	1	1	hg19	c.1366G>A	CCDS54918.1	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	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	0	PCDHA7	140195518	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	1	0	1		2	2	2	0		0	0	220		220	217	1	1.990000	-20.000000	1	0.360000	NM_018910			85	85		490	483	1		1	0		0	0	220	0		1.000000	6.028650e-02	0	0	0	3	0	85	490
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								Untested	Somatic	Phase_I	WXS	none			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	0.700000	0.370000	0.620000	0.440000	0.520000	0.537590	0.520000	0.520000																										0				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	3	121088	39				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	chr5.hg19:g.149001460C>T		1						p.A390A	NM_001001669.2	NP_001001669.2	1	2	3	2.393020	A1IGU5	ARH37_HUMAN		9	1333	+			Q6ZW51	Silent	SNP	ENST00000333677.6	1	1	hg19	c.1170C>T	CCDS43385.1	0																																																																																								0.457627		TCGA-IB-7652-01A-11D-2154-08	0.577	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	0	0	1		2	2	2	0		0	0	158		158	157	1	1.990000	-20.000000	1	0.360000	NM_001001669			36	36		412	408	0		1	1		0	0	158	0		1.000000	9.687245e-01	0	3	0	63	0	36	412
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.850000	1.000000	0.940000	0.990000	0.979927	0.990000	1.000000																										0				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	0	0					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	chr5.hg19:g.150923942G>T	ENSP00000261800:p.Ala2249Asp	1						p.A2249D	NM_001447.2	NP_001438.1	1	2	3	2.393020	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)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	1	1	hg19	c.6746C>A	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261414	0.59431	.	.	ENSG00000086570	ENST00000261800	T	0.60171	0.21	5.68	5.68	0.88126	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	0	FAT2	150904135	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1		2	2	2	0		0	0	138		138	137	1	1.990000	-20.000000	1	0.360000	NM_001447			104	104		554	548	1		1			0	0	138	0		1.000000	0	0	0	0	0	0	104	554
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	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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	0.900000	0.440000	0.780000	0.540000	0.650000	0.664316	0.650000	0.640000																										0				15						c.(439-441)Ggg>Agg		secreted protein, acidic, cysteine-rich (osteonectin)							106.0	93.0	98.0					5																	151049237		2203	4300	6503	SO:0001583	missense	6678	2	121412	31				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	chr5.hg19:g.151049237C>T	ENSP00000231061:p.Gly147Arg	1					SPARC_ENST00000537849.1_5'Flank	p.G147R	NM_003118.3	NP_003109.1	1	2	3	2.393020	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	6	752	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	1	1	hg19	c.439G>A	CCDS4318.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	SPARC	151029430	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.572	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	1	0	1		2	2	2	0		0	0	108		108	106	1	1.990000	-2.841674	1	0.360000	NM_003118			27	26		246	243	0		1	0		0	0	108	0		1.000000	1	0	0	0	7346	0	27	246
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.870000	1.000000	0.950000	0.990000	0.984625	0.990000	1.000000				Dom	yes			Dom	yes		5	5q31-q32	5q31-q32	3702	T	IL2-inducible T-cell kinase				L	L	SYK		peripheral T-cell lymphoma		0				70						c.(109-111)agC>agT		IL2-inducible T-cell kinase	Pazopanib(DB06589)						128.0	123.0	125.0					5																	156608099		2203	4300	6503	SO:0001819	synonymous_variant	3702	0	0					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	chr5.hg19:g.156608099C>T		1						p.S37S	NM_005546.3	NP_005537.3	1	2	3	2.393020	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)	B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	1	1	hg19	c.111C>T	CCDS4336.1	1																																																																																								0.457627		TCGA-IB-7652-01A-11D-2154-08	0.398	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2	1	0	1		2	2	2	0		0	0	284		284	276	1	1.990000	-20.000000	1	0.360000				121	121		638	635	1		1	0		0	0	284	0		1.000000	2.587768e-02	0	0	0	2	0	121	638
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000393347.3_Missense_Mutation_p.R189W|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_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	0.950000	0.520000	0.840000	0.620000	0.720000	0.735591	0.720000	0.720000																										0				71						c.(565-567)Cgg>Tgg		fms-related tyrosine kinase 4	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						72.0	67.0	69.0					5																	180057054		2200	4297	6497	SO:0001583	missense	2324	0	0					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	chr5.hg19:g.180057054G>A	ENSP00000261937:p.Arg189Trp	1					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W	p.R189W	NM_182925.4	NP_891555.2	1	2	3	2.381313	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	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)	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	1	1	hg19	c.565C>T	CCDS4457.1	0	.	.	.	.	.	.	.	.	.	.	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	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	2	FLT4	179989660	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.647	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1		2	2	2	0		0	0	185		185	173	1	1.990000	-3.017765	1	0.360000				39	39		314	300	1		1	0		0	0	185	0		1.000000	7.796675e-01	0	0	0	25	0	39	314
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								Untested	Somatic	Phase_I	WXS	none			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																																						ENST00000343882.6	0.280000	0.050000	0.220000	0.090000	0.140000	0.160241	0.140000	0.140000																										0				26						c.(1123-1125)aCc>aGc		forkhead box O3							44.0	42.0	43.0					6																	108985160		2203	4300	6503	SO:0001583	missense	2309	1	121412	26				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	chr6.hg19:g.108985160C>G	ENSP00000339527:p.Thr375Ser	0					FOXO3_ENST00000406360.1_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	p.T375S	NM_201559.2	NP_963853.1	0	0	0	1.993689	O43524	FOXO3_HUMAN		3	1428	+		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)	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	0	1	hg19	c.1124C>G	CCDS5068.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	FOXO3	109091853	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	0.357688		TCGA-IB-7652-01A-11D-2154-08	0.582	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2	0	0	1		2	2	2	0		0	0	103		103	99	1	1.990000	-7.589620	1	0.360000				6	6		232	225	0		1	0		0	0	103	0		0.962194	8.784722e-01	0	0	0	148	0	6	232
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000366894.1_5'UTR|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L	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	0.490000	0.200000	0.410000	0.260000	0.320000	0.340469	0.320000	0.330000																										0				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	0	0					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	chr6.hg19:g.162864492G>T	ENSP00000355865:p.Phe7Leu	0					PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L	p.F7L	NM_004562.2	NP_004553.2	0	0	0	1.950015	O60260	PRKN2_HUMAN		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)	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	1	1	hg19	c.21C>A	CCDS5281.1	0	.	.	.	.	.	.	.	.	.	.	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	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	2	PARK2	162784482	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	0.341021		TCGA-IB-7652-01A-11D-2154-08	0.498	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1	0	0	1		2	2	2	0		0	0	203		203	203	1	1.990000	-5.902384	1	0.360000				19	18		294	293	0		1	0		0	0	203	0		0.999991	0	0	0	0	1	0	19	294
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	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.840000	1.000000	0.910000	0.980000	0.965245	0.980000	1.000000																										0				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	0	0					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	chr6.hg19:g.20490617G>A	ENSP00000262904:p.Asp452Asn	0					E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	p.D452N	NM_001949.4	NP_001940.1	1	2	3	2.050700	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)		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	1	1	hg19	c.1354G>A	CCDS4545.1	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	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	0	E2F3	20598596	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	0.367964		TCGA-IB-7652-01A-11D-2154-08	0.468	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1	1	0	1		2	2	2	0		0	0	278		278	275	1	1.990000	-20.000000	1	0.360000				155	155		732	725	1		1	1		0	0	278	0		1.000000	9.974819e-01	0	16	0	28	0	155	732
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.840000	1.000000	0.910000	0.980000	0.964822	0.980000	1.000000																										1	Substitution - Missense(1)	p.L249V(1)	lung(1)	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	0	0					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	chr6.hg19:g.29365221C>A	ENSP00000373047:p.Leu249Ile	0					OR5V1_ENST00000377154.1_Intron	p.L249I	NM_013936.3	NP_039224.2	1	2	3	2.050700	P58182	O12D2_HUMAN		1	806	+			B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	1	1	hg19	c.745C>A	CCDS4659.1	1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306945	0.23821	.	.	ENSG00000168787	ENST00000383555	T	0.00256	8.42	3.94	1.01	0.19927	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	0	OR12D2	29473200	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	0.367964		TCGA-IB-7652-01A-11D-2154-08	0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2	1	0	1		2	2	2	0		0	0	321		321	318	1	1.990000	-20.000000	1	0.360000				160	159		757	755	1		1	0		0	0	321	0		1.000000	0	0	0	0	1	0	160	757
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								Untested	Somatic	Phase_I	WXS	none			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																																						ENST00000369700.3	1.000000	0.910000	1.000000	0.990000	0.990000	0.993863	0.990000	1.000000																										0				32						c.(397-399)aTc>aCc		protease, serine, 35							98.0	93.0	95.0					6																	84233558		2203	4300	6503	SO:0001583	missense	167681	1	121412	32				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	chr6.hg19:g.84233558T>C	ENSP00000358714:p.Ile133Thr	0					PRSS35_ENST00000536636.1_Missense_Mutation_p.I133T	p.I133T	NM_153362.2	NP_699193.2	0	0	0	1.993689	Q8N3Z0	PRS35_HUMAN		2	575	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	1	1	hg19	c.398T>C	CCDS4999.1	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	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	0	PRSS35	84290277	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	0.357688		TCGA-IB-7652-01A-11D-2154-08	0.458	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	1	0	1		2	2	2	0		0	0	184		184	180	1	1.990000	-20.000000	1	0.360000	NM_153362			105	105		422	419	1		1	0		0	0	184	0		1.000000	2.638746e-01	0	0	0	5	0	105	422
TBP	6908	broad.mit.edu	37	6	170871100	170871100	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:170871100G>A	ENST00000392092.2	+	3	555	c.276G>A	c.(274-276)caG>caA	p.Q92Q	TBP_ENST00000540980.1_Silent_p.Q72Q|TBP_ENST00000230354.6_Silent_p.Q92Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	92	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.		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)			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)		agcagcagcagcagcaacagg	0.612																																						ENST00000392092.2	1.000000	0.990000	1.000000	0.990000	0.990000	0.999874	0.990000	1.000000																										0				26						c.(274-276)caG>caA		TATA box binding protein							26.0	32.0	30.0					6																	170871100		1970	3801	5771	SO:0001819	synonymous_variant	6908	0	0					g.chr6:170871100G>A	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.276G>A	chr6.hg19:g.170871100G>A		0					TBP_ENST00000230354.6_Silent_p.Q92Q|TBP_ENST00000540980.1_Silent_p.Q72Q	p.Q92Q	NM_003194.4	NP_003185.1	0	0	0	1.950015	P20226	TBP_HUMAN		3	555	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	1	0	hg19	c.276G>A	CCDS5315.1	1																																																																																								0.341021		TCGA-IB-7652-01A-11D-2154-08	0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	0	0	0		2	3	2	2		2	0	108		108	87	1	1.990000	-2.884778	1	0.360000	NM_003194			90	27		284	263	1		1	1		2	0	108	0		1.000000	9.473800e-01	0	5	0	19	0	90	284
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.720000	1.000000	0.800000	0.880000	0.890745	0.880000	1.000000																										0				128						c.(1321-1323)agA>agT		filamin C, gamma							87.0	97.0	94.0					7																	128478769		2127	4223	6350	SO:0001583	missense	2318	0	0					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	chr7.hg19:g.128478769A>T	ENSP00000327145:p.Arg441Ser	1					FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	p.R441S	NM_001458.4	NP_001449.3	2	2	4	2.116647	Q14315	FLNC_HUMAN		8	1584	+			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	1	1	hg19	c.1323A>T	CCDS43644.1	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	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	2	FLNC	128266005	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	0.394856		TCGA-IB-7652-01A-11D-2154-08	0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	0	0	1		9	2	2	1		1	1	354		354	343	1	1.990000	-2.920951	1	0.360000				106	104		607	602	1		1	0		1	0	354	0		1.000000	5.043645e-01	0	0	0	11	0	106	607
GTF2IRD2B	389524	broad.mit.edu	37	7	74563983	74563983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:74563983C>T	ENST00000312575.7	+	16	1905	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.S124F	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						ttcgatgtgtccgaagaactt	0.443																																						ENST00000312575.7	1.000000	0.710000	1.000000	0.850000	0.990000	0.945569	0.990000	1.000000																										0				4						c.(1729-1731)tCc>tTc		GTF2I repeat domain containing 2B							31.0	33.0	32.0					7																	74563983		2201	4297	6498	SO:0001583	missense	389524	0	0					g.chr7:74563983C>T	AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.1730C>T	chr7.hg19:g.74563983C>T	ENSP00000308080:p.Ser577Phe	1					GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.S124F	p.S577F	NM_001003795.2	NP_001003795.1	2	2	4	2.116647	Q6EKJ0	GTD2B_HUMAN		16	1905	+			B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	ENST00000312575.7	1	0	hg19	c.1730C>T	CCDS34659.1	1	.	.	.	.	.	.	.	.	.	.	C	4.259	0.047024	0.08243	.	.	ENSG00000174428	ENST00000312575;ENST00000418185	T;T	0.22539	1.95;1.95	1.53	1.53	0.23141	1.53	1.53	0.23141	Ribonuclease H-like (1);	.	.	.	.	T	0.18045	0.0433	L	0.43923	1.385	0.33876	D	0.635526	B;P	0.48911	0.021;0.917	B;P	0.46049	0.009;0.502	T	0.27191	-1.0081	9	0.22706	T	0.39	-4.1018	6.5351	0.22348	0.0:1.0:0.0:0.0	.	72;577	Q86Y00;Q6EKJ0	.;GTD2B_HUMAN	F	577;124	ENSP00000308080:S577F;ENSP00000411454:S124F	ENSP00000308080:S577F	S	+	2	0	0	GTF2IRD2B	74201919	74201919	0.018000	0.18449	0.895000	0.35142	0.475000	0.33008	1.774000	0.38573	1.164000	0.42652	0.430000	0.28490	TCC	0.394856		TCGA-IB-7652-01A-11D-2154-08	0.443	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	1	0	1		2	2	2	0		0	0	60		60	145	1	1.990000	-18.427890	1	0.360000	NM_001003795			32	30		158	148	0		1	1		0	0	60	0		1.000000	7.459707e-01	0	3	0	12	0	32	158
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000223140.5_Missense_Mutation_p.R217H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H	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	1.000000	0.900000	1.000000	0.990000	0.990000	0.992807	0.990000	1.000000																										0				26						c.(904-906)cGc>cAc		NOBOX oogenesis homeobox							87.0	80.0	83.0					7																	144097345		1892	4124	6016	SO:0001583	missense	135935	0	0					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	chr7.hg19:g.144097345C>T	ENSP00000419457:p.Arg302His	1					NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	p.R302H	NM_001080413.3	NP_001073882.3	2	2	4	2.116647	O60393	NOBOX_HUMAN		5	904	-	Melanoma(164;0.14)		A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	1	1	hg19	c.905G>A		1	.	.	.	.	.	.	.	.	.	.	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	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	0	NOBOX	143728278	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	0.394856		TCGA-IB-7652-01A-11D-2154-08	0.557	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	1	0	1		2	2	2	0		0	0	158		158	155	1	1.990000	-20.000000	1	0.360000	XM_001134420			69	68		292	289	1		1			0	0	158	0		1.000000	0	0	0	0	0	0	69	292
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.640000	0.970000	0.770000	0.890000	0.879063	0.890000	0.990000																										0				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	13	120940	38				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	chr8.hg19:g.1497384C>T		1						p.N175N	NM_004745.3	NP_004736.2	0	1	1	1.681487	Q9P1A6	DLGP2_HUMAN		2	659	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	1	1	hg19	c.525C>T	CCDS47760.1	1	.	.	.	.	.	.	.	.	.	.	C	1.430	-0.570388	0.03910	0.001382	1.17E-4	ENSG00000198010	ENST00000520901	.	.	.	5.57	-4.39	0.03611	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	0	DLGAP2	1484791	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	0.219512		TCGA-IB-7652-01A-11D-2154-08	0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1		2	2	2	0		0	0	16		16	16	1	1.990000	-20.000000	1	0.360000	NM_004745			18	18		53	53	1		1			0	0	16	0		0.999993	0	0	0	0	0	0	18	53
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								Untested	Somatic	Phase_I	WXS	none			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	0.370000	0.140000	0.310000	0.190000	0.240000	0.255990	0.240000	0.240000																										0				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	0	0					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	chr8.hg19:g.52384855C>T	ENSP00000348645:p.Arg235Gln	0					PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	p.R235Q	NM_144651.4	NP_653252	0	0	0	1.982820	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)	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	1	1	hg19	c.704G>A	CCDS47855.1	0	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	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	0	PXDNL	52547408	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	0.355359		TCGA-IB-7652-01A-11D-2154-08	0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	1		2	2	2	0		0	0	161		161	158	1	1.990000	-3.157053	1	0.360000	NM_144651			17	17		367	363	0		1	0		0	0	161	0		0.999964	6.632273e-03	0	0	0	3	0	17	367
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								Untested	Somatic	Phase_I	WXS	none			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	0.450000	0.290000	0.410000	0.320000	0.360000	0.372527	0.360000	0.370000																										0				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	0	0					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	chr9.hg19:g.107267140G>A	ENSP00000334452:p.Met199Ile	0						p.M199I	NM_001004485.1	NP_001004485.1	0	1	1	2.002675	Q8NGS4	O13F1_HUMAN		1	686	+			Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	1	1	hg19	c.597G>A	CCDS35087.1	0	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918213	0.17982	.	.	ENSG00000186881	ENST00000334726	T	0.00048	8.82	4.29	2.16	0.27623	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	0	OR13F1	106306961	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	0.358846		TCGA-IB-7652-01A-11D-2154-08	0.433	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1	0	0	1		2	2	2	0		0	0	365		365	364	1	1.990000	-12.923450	1	0.360000				80	80		1122	1118	0		1			0	0	365	0		1.000000	0	0	0	0	0	0	80	1122
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								Untested	Somatic	Phase_I	WXS	none			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	0.960000	0.650000	0.890000	0.720000	0.800000	0.813369	0.800000	0.810000																										0				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	0	0					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	chr9.hg19:g.113169147C>G	ENSP00000384917:p.Lys2911Asn	1					SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N|SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N	p.K2911N	NM_153366.3	NP_699197.3	1	2	3	2.368430	Q4LDE5	SVEP1_HUMAN		38	9069	-			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	1	1	hg19	c.8733G>C	CCDS48004.1	0	.	.	.	.	.	.	.	.	.	.	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	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	2	SVEP1	112208968	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.552	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	216		216	214	1	1.990000	-2.966611	1	0.360000				92	91		654	647	1		1	0		0	0	216	0		1.000000	9.874727e-01	0	0	0	50	0	92	654
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	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.500000	1.000000	0.690000	0.940000	0.877559	0.940000	1.000000																										0				27						c.(2902-2904)agG>agT		DAB2 interacting protein							13.0	16.0	15.0					9																	124535711		2198	4297	6495	SO:0001583	missense	153090	0	0					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	chr9.hg19:g.124535711G>T	ENSP00000386183:p.Arg968Ser	1					DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S	p.R968S			1	2	3	2.409872	Q5VWQ8	DAB2P_HUMAN		12	3086	+			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	1	1	hg19	c.2904G>T		1	.	.	.	.	.	.	.	.	.	.	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	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	2	DAB2IP	123575532	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.652	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	1	0	1		2	2	2	0		0	0	38		38	38	1	1.990000	-18.550380	1	0.360000	NM_032552			10	10		61	59	0		1	1		0	0	38	0		0.997189	9.999612e-01	0	32	0	106	0	10	61
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	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR	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	1.000000	0.910000	1.000000	0.990000	0.990000	0.993602	0.990000	1.000000																										0				8						c.(271-273)ctG>ctT		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	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)						87.0	90.0	89.0					9																	125140773		2203	4300	6503	SO:0001819	synonymous_variant	5742	0	0					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	chr9.hg19:g.125140773G>T		1					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	1	2	3	2.409872	P23219	PGH1_HUMAN		4	278	+			A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	1	1	hg19	c.273G>T	CCDS6842.1	1																																																																																								0.457627		TCGA-IB-7652-01A-11D-2154-08	0.622	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1	1	0	1		2	2	2	0		0	0	324		324	314	1	1.990000	-20.000000	1	0.360000				117	117		584	577	0		1	0		0	0	324	0		1.000000	9.999994e-01	0	1	0	100	0	117	584
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				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	392392	2	121382	33				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	chr9.hg19:g.125563309G>A	ENSP00000277309:p.Arg303Gln	1						p.R303Q	NM_080859.1	NP_543135.1	1	2	3	2.409872	Q8NGR3	OR1K1_HUMAN		1	940	+			B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	1	1	hg19	c.908G>A	CCDS35132.1	1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211147	0.09757	.	.	ENSG00000165204	ENST00000277309	T	0.39406	1.08	4.49	1.68	0.24146	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	0	OR1K1	124603130	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.582	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1	1	0	1		2	2	2	0		0	0	148		148	144	1	1.990000	-20.000000	1	0.360000				110	108		227	223	0		1			0	0	148	0		1.000000	0	0	0	0	0	0	110	227
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								Untested	Somatic	Phase_I	WXS	none			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	0.780000	0.100000	0.560000	0.190000	0.340000	0.383772	0.340000	0.300000																										0				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	0	0					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	chr9.hg19:g.133540159G>A	ENSP00000253008:p.Arg40His	1						p.R40H	NM_021619.2	NP_067632.2	1	2	3	2.414666	Q9H4Q4	PRD12_HUMAN		1	179	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	0	1	hg19	c.119G>A	CCDS6934.1	0	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905725	0.52333	.	.	ENSG00000130711	ENST00000253008	T	0.09723	2.95	4.48	3.51	0.40186	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	0	PRDM12	132529980	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.677	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	0	0	0		2	2	2	0		0	0	31		31	31	1	1.990000	-6.927076	1	0.360000	NM_021619			3	2		62	61	0		1		0	0	0	31	0		0.802560	0	0	0	0	0	1	3	62
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	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000438527.3_Missense_Mutation_p.R635T|DDX31_ENST00000372153.1_Missense_Mutation_p.R691T	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	1.000000	0.940000	1.000000	0.990000	0.990000	0.996668	0.990000	1.000000																										0				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	0	0					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	chr9.hg19:g.135487492C>G	ENSP00000361232:p.Arg764Thr	1					DDX31_ENST00000438527.3_Missense_Mutation_p.R635T|DDX31_ENST00000372153.1_Missense_Mutation_p.R691T	p.R764T	NM_022779.7	NP_073616.6	1	2	3	2.414666	Q9H8H2	DDX31_HUMAN		19	2442	-			Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	1	1	hg19	c.2291G>C	CCDS6951.1	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	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	0	DDX31	134477313	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.532	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	1	0	1		2	2	2	0		0	0	199		199	198	1	1.990000	-2.931160	1	0.360000	NM_138620			126	126		612	608	1		1	1		0	0	199	0		1.000000	9.989779e-01	0	13	0	38	0	126	612
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	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			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																																						ENST00000354484.4	1.000000	0.860000	1.000000	0.990000	0.990000	0.988490	0.990000	1.000000																										0				14						c.(181-183)cGc>cAc		ADAMTS-like 2							34.0	40.0	38.0					9																	136402618		2203	4298	6501	SO:0001583	missense	9719	0	0					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	chr9.hg19:g.136402618G>A	ENSP00000346478:p.Arg61His	1					ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.R170H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H	p.R61H	NM_001145320.1	NP_001138792.1	1	2	3	2.338965	Q86TH1	ATL2_HUMAN		3	739	+			B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	1	1	hg19	c.182G>A	CCDS6976.1	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	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	0	ADAMTSL2	135392439	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	0.457627		TCGA-IB-7652-01A-11D-2154-08	0.672	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	1	0	1		2	2	2	0		0	0	143		143	138	1	1.990000	-20.000000	1	0.360000	NM_014694			51	48		245	242	1		1	0		0	0	143	0		1.000000	9.997805e-01	0	1	0	62	0	51	245
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000298480.5_Silent_p.A966A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000488444.2_Silent_p.A947A			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																																						ENST00000263604.3	0.890000	0.500000	0.790000	0.580000	0.680000	0.693090	0.680000	0.690000																										0				50						c.(2839-2841)gcC>gcT		potassium channel, subfamily T, member 1							73.0	64.0	67.0					9																	138675926		2203	4300	6503	SO:0001819	synonymous_variant	57582	11	121396	40				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	chr9.hg19:g.138675926C>T		1					KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000298480.5_Silent_p.A966A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000490355.2_Silent_p.A945A	p.A947A			1	2	3	2.338965	Q5JUK3	KCNT1_HUMAN		25	2841	+		Myeloproliferative disorder(178;0.0821)	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	1	1	hg19	c.2841C>T		0																																																																																								0.457627		TCGA-IB-7652-01A-11D-2154-08	0.667	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	222		222	203	1	1.990000	-2.879461	1	0.360000	NM_020822			41	39		353	342	1		1			0	0	222	0		1.000000	0	0	0	0	0	0	41	353
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.740000	0.940000	0.800000	0.860000	0.872519	0.860000	0.870000																										0				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	0	0					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	chrX.hg19:g.102529240T>A								p.P84P	NM_001012979.2	NP_001012997.1	0	1	1		Q5H9L2	TCAL5_HUMAN		3	546	-			A2RUJ4	Silent	SNP	ENST00000372680.1	1	1	hg19	c.252A>T	CCDS35356.1	1																																																																																								0.360000		TCGA-IB-7652-01A-11D-2154-08	0.587	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	1	0	1		2	2	2	0		0	0	332		332	259	1	1.990000	-20.000000	1	0.360000	XM_291334			148	142		796	654	1		1	0		0	0	332	0		1.000000	4.253071e-01	0	0	0	9	0	148	796
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|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																																						ENST00000361420.3	0.930000	0.690000	0.870000	0.750000	0.800000	0.816533	0.800000	0.820000																										1	Substitution - Nonsense(1)	p.Q1072*(1)	lung(1)	78						c.(3214-3216)Cag>Gag		immunoglobulin superfamily, member 1							79.0	82.0	81.0					X																	130409231		2203	4300	6503	SO:0001583	missense	3547	0	0					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	chrX.hg19:g.130409231G>C	ENSP00000355010:p.Gln1072Glu						IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000370904.1_Missense_Mutation_p.Q1063E|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E	p.Q1072E			0	1	1		Q8N6C5	IGSF1_HUMAN		17	3293	-			B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	1	1	hg19	c.3214C>G	CCDS14629.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	IGSF1	130236912	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	0.360000		TCGA-IB-7652-01A-11D-2154-08	0.542	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	1	0	1		2	2	2	0		0	0	326		326	322	1	1.990000	-3.221884	1	0.360000				163	162		949	940	1		1	0		0	0	326	0		1.000000	2.754233e-01	0	0	0	7	0	163	949
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	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000422081.2_Silent_p.T3T|IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_Silent_p.T3T|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	0.280000	0.120000	0.240000	0.150000	0.190000	0.204598	0.190000	0.200000																										0				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	0	0					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	chrX.hg19:g.148579704C>A							IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000370441.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000422081.2_Silent_p.T3T	p.T214T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	0	1	1		P22304	IDS_HUMAN		5	851	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	1	1	hg19	c.642G>T	CCDS14685.1	0																																																																																								0.360000		TCGA-IB-7652-01A-11D-2154-08	0.532	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3	0	0	1		2	2	2	0		0	0	209		209	198	1	1.990000	-3.193399	1	0.360000				24	23		651	640	0		1	0		0	0	209	0		1.000000	1	0	0	0	835	0	24	651
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	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000380485.3_Missense_Mutation_p.S243N|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.S243N	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																																						ENST00000380488.4	1.000000	0.710000	0.980000	0.790000	0.880000	0.885739	0.880000	1.000000																										0				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	6	121412	35				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	chrX.hg19:g.15266898C>T	ENSP00000369855:p.Ser243Asn						ASB9_ENST00000546332.1_Missense_Mutation_p.S243N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.S243N|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N	p.S243N	NM_001031739.2	NP_001026909.1	0	1	1		Q96DX5	ASB9_HUMAN		6	1001	-	Hepatocellular(33;0.183)		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	1	1	hg19	c.728G>A	CCDS35208.1	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	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	0	ASB9	15176819	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	0.360000		TCGA-IB-7652-01A-11D-2154-08	0.557	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1	1	0	0		2	2	2	0		0	0	163		163	159	1	1.990000	-20.000000	1	0.360000				80	79		421	419	1		1	0		0	0	163	0		1.000000	9.980183e-01	0	1	0	50	0	80	421
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	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000380485.3_Missense_Mutation_p.R234C|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.R234C	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																																						ENST00000380488.4	1.000000	0.730000	1.000000	0.820000	0.910000	0.909305	0.910000	1.000000																										0				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	0	0					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	chrX.hg19:g.15266926G>A	ENSP00000369855:p.Arg234Cys						ASB9_ENST00000546332.1_Missense_Mutation_p.R234C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.R234C|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C	p.R234C	NM_001031739.2	NP_001026909.1	0	1	1		Q96DX5	ASB9_HUMAN		6	973	-	Hepatocellular(33;0.183)		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	1	1	hg19	c.700C>T	CCDS35208.1	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	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	0	ASB9	15176847	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	0.360000		TCGA-IB-7652-01A-11D-2154-08	0.557	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1	1	0	0		2	2	2	0		0	0	168		168	164	1	1.990000	-20.000000	1	0.360000				78	73		395	393	1		1	1		0	0	168	0		1.000000	9.991435e-01	0	4	0	51	0	78	395
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	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Silent_p.A324A|MTM1_ENST00000543350.1_Silent_p.A304A|MTM1_ENST00000413012.2_Silent_p.A382A	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	1.000000	0.660000	0.980000	0.750000	0.860000	0.866615	0.860000	1.000000																										0				26						c.(1255-1257)gcA>gcC		myotubularin 1							87.0	79.0	82.0					X																	149826497		2203	4300	6503	SO:0001819	synonymous_variant	4534	0	0					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	chrX.hg19:g.149826497A>C							MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A|MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A	p.A419A	NM_000252.2	NP_000243.1	0	1	1		Q13496	MTM1_HUMAN		11	1311	+	Acute lymphoblastic leukemia(192;6.56e-05)		A6NDB1|B7Z491|F2Z330|Q8NEL1	Silent	SNP	ENST00000370396.2	1	1	hg19	c.1257A>C	CCDS14694.1	1																																																																																								0.360000		TCGA-IB-7652-01A-11D-2154-08	0.318	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	1	0	1		2	2	2	0		0	0	76		76	74	1	1.990000	-20.000000	1	0.360000	NM_000252			50	50		270	270	1		1	1		0	0	76	0		1.000000	9.999199e-01	0	27	0	51	0	50	270
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000359763.6_Silent_p.S534S|PPEF1_ENST00000349874.5_Silent_p.S525S|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	1.000000	0.900000	1.000000	0.990000	0.990000	0.992583	0.990000	1.000000																										0				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	0	0					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	chrX.hg19:g.18845404C>T							PPEF1_ENST00000349874.5_Silent_p.S525S|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Silent_p.S534S	p.S587S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	0	1	1		O14829	PPE1_HUMAN		19	2255	+	Hepatocellular(33;0.183)		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	1	1	hg19	c.1761C>T	CCDS14188.1	1																																																																																								0.360000		TCGA-IB-7652-01A-11D-2154-08	0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	1	0	1		2	2	2	0		0	0	184		184	184	1	1.990000	-2.887929	1	0.360000	NM_006240			108	109		442	437	1		1	0		0	0	184	0		1.000000	3.913671e-02	0	0	0	2	0	108	442
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.840000	1.000000	0.910000	0.980000	0.967438	0.980000	1.000000																										0				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	0	0					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	chrX.hg19:g.30578132G>T	ENSP00000368245:p.Pro114Gln							p.P114Q	NM_025159.2	NP_079435.1	0	1	1		Q9HAI6	CX021_HUMAN		3	663	-				Missense_Mutation	SNP	ENST00000378962.3	1	1	hg19	c.341C>A	CCDS14224.1	1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515532	0.64634	.	.	ENSG00000120280	ENST00000378962	.	.	.	4.94	4.05	0.47172	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	0	CXorf21	30488053	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	0.360000		TCGA-IB-7652-01A-11D-2154-08	0.443	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	1	0	1		2	2	2	0		0	0	291		291	288	1	1.990000	-2.691029	1	0.360000	NM_025159			155	155		714	710	1		1	0		0	0	291	0		1.000000	9.511243e-01	0	0	0	25	0	155	714
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000343523.2_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_ENST00000378723.3_Missense_Mutation_p.Y286F	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	0.320000	0.120000	0.270000	0.160000	0.210000	0.219730	0.210000	0.210000																										0				77						c.(10060-10062)tAt>tTt		dystrophin							128.0	109.0	115.0					X																	31198512		2202	4300	6502	SO:0001583	missense	1756	0	0					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	chrX.hg19:g.31198512T>A	ENSP00000354923:p.Tyr3354Phe						DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F	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	0	1	1		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)	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	1	1	hg19	c.10061A>T	CCDS14233.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	DMD	31108433	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	0.360000		TCGA-IB-7652-01A-11D-2154-08	0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	0	1		2	2	2	0		0	0	119		119	117	1	1.990000	-16.057510	1	0.360000	NM_004006			16	16		410	406	0		1	0		0	0	119	0		0.999930	5.798785e-01	0	0	0	50	0	16	410
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.760000	1.000000	0.860000	0.960000	0.942435	0.960000	1.000000																										0				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	0	0					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	chrX.hg19:g.35989882G>A	ENSP00000297866:p.Arg717Lys							p.R717K	NM_152632.3	NP_689845.2	0	1	1		Q6ZTR5	CX022_HUMAN		12	2216	+			Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	1	1	hg19	c.2150G>A	CCDS14237.2	1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.793016	0.00623	.	.	ENSG00000165164	ENST00000297866	T	0.13307	2.6	5.6	-7.87	0.01183	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	0	CXorf22	35899803	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	0.360000		TCGA-IB-7652-01A-11D-2154-08	0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	0	0	1		2	2	2	0		0	0	139		139	139	1	1.990000	-20.000000	1	0.360000	NM_152632			70	69		332	330	1		1			0	0	139	0		1.000000	0	0	0	0	0	0	70	332
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000519389.1_Silent_p.H372H|HEPH_ENST00000441993.2_Silent_p.H321H			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																																						ENST00000343002.2	1.000000	0.800000	1.000000	0.920000	0.990000	0.973951	0.990000	1.000000																										0				89						c.(952-954)caC>caT		hephaestin							132.0	91.0	105.0					X																	65409671		2203	4300	6503	SO:0001819	synonymous_variant	9843	0	0					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	chrX.hg19:g.65409671C>T							HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H|HEPH_ENST00000519389.1_Silent_p.H372H|HEPH_ENST00000374727.3_Silent_p.H321H	p.H318H			0	1	1		Q9BQS7	HEPH_HUMAN		5	1618	+			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	0	1	hg19	c.954C>T		1																																																																																								0.360000		TCGA-IB-7652-01A-11D-2154-08	0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	0	0	1		2	2	2	0		0	0	56		56	56	1	1.990000	-20.000000	1	0.360000	NM_138737			45	45		189	185	0		1	1		0	0	56	0		1.000000	9.996183e-01	0	4	0	49	0	45	189
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_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_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_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	0.940000	0.600000	0.860000	0.680000	0.760000	0.774502	0.760000	0.760000																										0				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	0	0					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	chrX.hg19:g.91090988C>T	ENSP00000362186:p.Ala162Val						PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V	p.A162V	NM_032968.3	NP_116750.1	0	1	1		Q9BZA7	PC11X_HUMAN		1	1330	+			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	1	1	hg19	c.485C>T	CCDS14461.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	PCDH11X	90977644	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	0.360000		TCGA-IB-7652-01A-11D-2154-08	0.343	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	1	0	1		2	2	2	0		0	0	132		132	144	1	1.990000	-20.000000	1	0.360000	NM_032969			68	65		423	402	1		1			0	0	132	0		1.000000	0	0	0	0	0	0	68	423
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	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000360319.4_Missense_Mutation_p.R2635H|FLNA_ENST00000422373.1_Missense_Mutation_p.R2635H|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Missense_Mutation_p.R776H	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																																						ENST00000369850.3	0.280000	0.080000	0.230000	0.120000	0.160000	0.178844	0.160000	0.160000																										0				6						c.(7927-7929)cGc>cAc		filamin A, alpha							60.0	65.0	64.0					X																	153577233		2061	4161	6222	SO:0001583	missense	2316	3	120942	31				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	chrX.hg19:g.153577233C>T	ENSP00000358866:p.Arg2643His						FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000422373.1_Missense_Mutation_p.R2635H|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H|FLNA_ENST00000498491.1_5'Flank	p.R2643H	NM_001110556.1	NP_001104026.1	0	1	1		P21333	FLNA_HUMAN		48	8164	-	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)		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	1	1	hg19	c.7928G>A	CCDS48194.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	FLNA	153230427	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	0.360000		TCGA-IB-7652-01A-11D-2154-08	0.687	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	0	0	1		2	2	2	0		0	0	218		218	216	1	1.990000	-3.386818	1	0.360000				12	12		388	382	0		1	0		0	0	218	0		0.999064	9.999954e-01	0	1	0	822	0	12	388
