#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
PRDM16	63976	broad.mit.edu	37	1	3334494	3334495	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:3334494_3334495insTC	ENST00000270722.5	+	11	2843_2844	c.2794_2795insTC	c.(2794-2796)ttcfs	p.F932fs	PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F933fs|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	932	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCTTCAACTTCCGGTCCCCA	0.639			T	EVI1	"""MDS, AML"""																																	ENST00000270722.5		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(2794-2796)ttcfs		PR domain containing 16																																				SO:0001589	frameshift_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3334494_3334495insTC	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2795_2796dupTC	1.37:g.3334495_3334496dupTC	ENSP00000270722:p.Phe932fs	False	False		Somatic	1				PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F933fs	p.F932fs			WXS	Illumina HiSeq	Phase_I	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	11	2843_2844	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	932			Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Frame_Shift_Ins	INS	ENST00000270722.5	37	c.2794_2795insTC	CCDS41236.2																																																																																				0.639	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	0	NM_022114		1:3334494
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
ARID3B	10620	broad.mit.edu	37	15	74836314	74836316	+	In_Frame_Del	DEL	CAA	CAA	-	rs8043032|rs529059345|rs540147284	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:74836314_74836316delCAA	ENST00000346246.5	+	2	268_270	c.37_39delCAA	c.(37-39)caadel	p.Q15del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	15	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcagcaacaacagaagc	0.571																																						ENST00000346246.5		NA																	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(37-39)caadel		AT rich interactive domain 3B (BRIGHT-like)				1115,3137		140,835,1151						2.7	0.9			20	850,7396		47,756,3320	no	coding	ARID3B	NM_006465.2		187,1591,4471	A1A1,A1R,RR		10.308,26.223,15.7225				1965,10533				SO:0001651	inframe_deletion	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74836314_74836316delCAA		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.37_39delCAA	15.37:g.74836317_74836319delCAA	ENSP00000343126:p.Gln15del	True	False		Somatic	2					p.Q15del	NM_006465.2	NP_006456.1	WXS	Illumina HiSeq	Phase_I	Q8IVW6	ARI3B_HUMAN			2	268_270	+			15			Gln-rich.		O95443|Q59HC9|Q6P9C9	In_Frame_Del	DEL	ENST00000346246.5	37	c.37_39delCAA	CCDS10264.1																																																																																				0.571	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	0	NM_006465		15:74836314
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Intron	DEL	C	C	-	rs577355457|rs201441562|rs560850105|rs72613250|rs72331392	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:109850201delC	ENST00000424296.2	-	29	3710				AK9_ENST00000355283.1_Frame_Shift_Del_p.V295fs|AK9_ENST00000341338.6_Intron	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										aaaaaaaaaacaaaaCTACTT	0.413													|||unknown(HR)	663	0.132388	0.0333	0.1167	5008	,	,		17019	0.1974		0.0964	False		,,,				2504	0.2474					ENST00000355283.1		NA																	0					NA						c.(883-885)gttfs		adenylate kinase 9							40.0	27.0	32.0					6																	109850201		2117	3722	5839	SO:0001627	intron_variant	221264							g.chr6:109850201delC	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+12G>-	6.37:g.109850201delC		True	False		Somatic	1				AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron	p.V295fs			WXS	Illumina HiSeq	Phase_I					5	1129	-			NA					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	c.883delG	CCDS55048.1																																																																																				0.413	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001145128		6:109850201
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6		NA																RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		False	False		Somatic	0					p.P780P	NM_006267.4	NP_006258.3	WXS	Illumina HiSeq	Phase_I	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	NM_006267		2:109371498
TTN	7273	broad.mit.edu	37	2	179585746	179585746	+	Missense_Mutation	SNP	G	G	A	rs374430623		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:179585746G>A	ENST00000591111.1	-	77	22273	c.22049C>T	c.(22048-22050)aCg>aTg	p.T7350M	TTN_ENST00000589042.1_Missense_Mutation_p.T7667M|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12913	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATTGATCGTAAGCAATGC	0.453																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(22999-23001)aCg>aTg		titin		G	MET/THR,,,	0,3976		0,0,1988	109.0	108.0	109.0		19268,,,	6.2	1.0	2		109	1,8369		0,1,4184	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	81,,,	0,1,6172	AA,AG,GG		0.0119,0.0,0.0081	probably-damaging,,,	6423/33424,,,	179585746	1,12345	1988	4185	6173	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585746G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22049C>T	2.37:g.179585746G>A	ENSP00000465570:p.Thr7350Met	False	False		Somatic	0				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T7350M	p.T7667M	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		79	23224	-			7350					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23000C>T		.	.	.	.	.	.	.	.	.	.	G	11.16	1.555764	0.27827	0.0	1.19E-4	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73598	0.3607	L	0.58302	1.8	0.80722	D	1	D	0.64830	0.994	P	0.58577	0.841	T	0.75402	-0.3330	9	0.87932	D	0	.	9.8046	0.40786	0.069:0.0:0.7906:0.1404	.	7350	Q8WZ42	TITIN_HUMAN	M	6423	ENSP00000343764:T6423M	ENSP00000343764:T6423M	T	-	2	0	TTN	179293991	0.900000	0.30661	0.994000	0.49952	0.904000	0.53231	3.281000	0.51685	2.937000	0.99478	0.650000	0.86243	ACG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179585746
TRIP12	9320	broad.mit.edu	37	2	230724186	230724186	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:230724186T>G	ENST00000283943.5	-	3	381	c.203A>C	c.(202-204)aAt>aCt	p.N68T	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	68					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCCTCGAGAATTGTCTTTCTT	0.463																																						ENST00000283943.5		NA																	0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(202-204)aAt>aCt		thyroid hormone receptor interactor 12							181.0	185.0	184.0					2																	230724186		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724186T>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.203A>C	2.37:g.230724186T>G	ENSP00000283943:p.Asn68Thr	False	False		Somatic	0				TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T	p.N68T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	WXS	Illumina HiSeq	Phase_I	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	381	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	68					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.203A>C	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663864	0.29515	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T	0.43294	0.95;0.95	5.72	-0.261	0.12963	.	0.285942	0.41500	D	0.000862	T	0.18383	0.0441	N	0.03608	-0.345	0.30514	N	0.769153	B;B;B	0.12013	0.001;0.005;0.0	B;B;B	0.10450	0.001;0.005;0.0	T	0.13150	-1.0520	10	0.33141	T	0.24	.	11.6681	0.51385	0.0:0.2442:0.0:0.7558	.	68;110;68	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	68;110;110;110;68;68;110;68	ENSP00000283943:N68T;ENSP00000373696:N110T	ENSP00000283943:N68T	N	-	2	0	TRIP12	230432430	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.262000	0.32992	0.060000	0.16281	0.460000	0.39030	AAT		0.463	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	0	NM_004238		2:230724186
COL6A5	256076	broad.mit.edu	37	3	130189737	130189737	+	Silent	SNP	C	C	T	rs145645992		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:130189737C>T	ENST00000432398.2	+	39	7994	c.7500C>T	c.(7498-7500)acC>acT	p.T2500T	COL6A5_ENST00000265379.6_Silent_p.T2500T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2500	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AATATCCCACCGAAGATATGA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		17835	0.001		0.0	False		,,,				2504	0.0					ENST00000265379.6		NA																	0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(7498-7500)acC>acT		collagen, type VI, alpha 5							82.0	80.0	80.0					3																	130189737		1890	4124	6014	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130189737C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7500C>T	3.37:g.130189737C>T		False	False		Somatic	0				COL6A5_ENST00000432398.2_Silent_p.T2500T	p.T2500T			WXS	Illumina HiSeq	Phase_I	A8TX70	CO6A5_HUMAN			39	7994	+			2500			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.7500C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.935	-0.444990	0.04604	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.35	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1187	0.03720	0.3297:0.4103:0.11:0.15	.	.	.	.	X	752	.	.	R	+	1	2	COL6A5	131672427	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-1.103000	0.03329	-0.753000	0.04721	0.655000	0.94253	CGA		0.433	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_153264		3:130189737
FCGBP	8857	broad.mit.edu	37	19	40368706	40368706	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:40368706G>A	ENST00000221347.6	-	28	12649	c.12642C>T	c.(12640-12642)tgC>tgT	p.C4214C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4214	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCAGAGCCCGCACACTGCGC	0.607																																						ENST00000221347.6		NA																	0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12640-12642)tgC>tgT		Fc fragment of IgG binding protein							236.0	238.0	237.0					19																	40368706		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368706G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12642C>T	19.37:g.40368706G>A		True	False		Somatic	0					p.C4214C	NM_003890.2	NP_003881.2	WXS	Illumina HiSeq	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12649	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4214			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12642C>T	CCDS12546.1																																																																																				0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	NM_003890		19:40368706
CSMD1	64478	broad.mit.edu	37	8	3047451	3047451	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr8:3047451G>A	ENST00000520002.1	-	35	5939	c.5384C>T	c.(5383-5385)aCg>aTg	p.T1795M	CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1795	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGGGGATCGTGTCGTTCCA	0.592																																						ENST00000602557.1		NA																	0				breast(20)|large_intestine(5)	25						c.(5383-5385)aCg>aTg		CUB and Sushi multiple domains 1							35.0	39.0	38.0					8																	3047451		2014	4165	6179	SO:0001583	missense	64478					integral to membrane		g.chr8:3047451G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5384C>T	8.37:g.3047451G>A	ENSP00000430733:p.Thr1795Met	False	False		Somatic	0				CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T1795M	p.T1795M			WXS	Illumina HiSeq	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	35	5939	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1795			Sushi 10.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5384C>T		.	.	.	.	.	.	.	.	.	.	G	16.07	3.018426	0.54576	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.064322	0.64402	D	0.000010	T	0.77618	0.4157	M	0.67397	2.05	0.58432	D	0.999994	D;P;D	0.76494	0.998;0.951;0.999	P;D;D	0.66497	0.885;0.932;0.944	T	0.77877	-0.2424	10	0.52906	T	0.07	.	19.4214	0.94723	0.0:0.0:1.0:0.0	.	1795;1795;1795	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	M	1795;1795;1657;1794;1794;1794	ENSP00000383047:T1795M;ENSP00000430733:T1795M;ENSP00000441462:T1794M;ENSP00000446243:T1794M;ENSP00000441675:T1794M	ENSP00000320445:T1657M	T	-	2	0	CSMD1	3034858	1.000000	0.71417	0.951000	0.38953	0.166000	0.22503	7.369000	0.79578	2.653000	0.90120	0.544000	0.68410	ACG		0.592	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	NM_033225		8:3047451
GPATCH3	63906	broad.mit.edu	37	1	27220874	27220874	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:27220874G>A	ENST00000361720.5	-	3	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	302	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCTTCATGCCGTTCCCATTCC	0.602																																						ENST00000361720.5		NA																	0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(904-906)Cgg>Tgg		G patch domain containing 3							167.0	141.0	150.0					1																	27220874		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27220874G>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.904C>T	1.37:g.27220874G>A	ENSP00000354645:p.Arg302Trp	False	False		Somatic	0					p.R302W	NM_022078.2	NP_071361.2	WXS	Illumina HiSeq	Phase_I	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	3	927	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	302			Glu-rich.		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.904C>T	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152813	0.78001	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.56776	0.44	4.57	4.57	0.56435	.	0.073564	0.56097	D	0.000023	T	0.73187	0.3555	M	0.84683	2.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77534	-0.2552	10	0.87932	D	0	-19.9713	11.608	0.51043	0.0:0.0:0.6939:0.3061	.	302	Q96I76	GPTC3_HUMAN	W	302;284;113	ENSP00000354645:R302W	ENSP00000354645:R302W	R	-	1	2	GPATCH3	27093461	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.637000	0.46553	2.363000	0.80096	0.563000	0.77884	CGG		0.602	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	0	NM_022078		1:27220874
TTLL8	164714	broad.mit.edu	37	22	50472798	50472798	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:50472798A>G	ENST00000266182.6	-	9	1014	c.1015T>C	c.(1015-1017)Tcc>Ccc	p.S339P	TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	359	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGGCCCCGGGACTTGGCCGCG	0.607																																						ENST00000266182.6		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(1015-1017)Tcc>Ccc		tubulin tyrosine ligase-like family, member 8							39.0	43.0	42.0					22																	50472798		1916	4110	6026	SO:0001583	missense	164714							g.chr22:50472798A>G			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1015T>C	22.37:g.50472798A>G	ENSP00000266182:p.Ser339Pro	True	False		Somatic	0				TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P	p.S339P			WXS	Illumina HiSeq	Phase_I				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	9	1014	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	NA					B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.1015T>C		.	.	.	.	.	.	.	.	.	.	A	16.98	3.271331	0.59649	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.06608	3.28;3.28;3.28	4.61	4.61	0.57282	.	0.136701	0.51477	D	0.000092	T	0.34424	0.0897	H	0.94385	3.53	0.37158	D	0.902473	D	0.89917	1.0	D	0.91635	0.999	T	0.57201	-0.7852	10	0.87932	D	0	.	13.2755	0.60184	1.0:0.0:0.0:0.0	.	339	B5MDV0	.	P	339;323;359	ENSP00000266182:S339P;ENSP00000387509:S323P;ENSP00000392252:S359P	ENSP00000266182:S339P	S	-	1	0	TTLL8	48814925	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	6.401000	0.73256	1.836000	0.53414	0.459000	0.35465	TCC		0.607	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_001080447		22:50472798
ADAM12	8038	broad.mit.edu	37	10	127755358	127755358	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:127755358G>A	ENST00000368679.4	-	13	1659	c.1350C>T	c.(1348-1350)tgC>tgT	p.C450C	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Silent_p.C450C	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	450	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCATTGCAGCAGCGATTCA	0.522																																						ENST00000368679.4		NA																	0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1348-1350)tgC>tgT		ADAM metallopeptidase domain 12							101.0	86.0	91.0					10																	127755358		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127755358G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1350C>T	10.37:g.127755358G>A		False	False		Somatic	0				ADAM12_ENST00000368676.4_Silent_p.C450C|ADAM12_ENST00000467145.1_5'UTR	p.C450C	NM_003474.4	NP_003465.3	WXS	Illumina HiSeq	Phase_I	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	13	1659	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	450			Disintegrin.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.1350C>T	CCDS7653.1																																																																																				0.522	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1	0			10:127755358
CNTN4	152330	broad.mit.edu	37	3	3078896	3078896	+	Missense_Mutation	SNP	C	C	T	rs151038163		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:3078896C>T	ENST00000397461.1	+	17	2360	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V|CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	659	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACATTCACAGCGACCGTGGTG	0.498																																						ENST00000397461.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1975-1977)gCg>gTg		contactin 4		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	149.0	148.0	149.0		1976,989,1976,992	5.5	0.9	3	dbSNP_134	149	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	64,64,64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	659/1027,330/698,659/1027,331/699	3078896	2,13004	2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078896C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1976C>T	3.37:g.3078896C>T	ENSP00000380602:p.Ala659Val	False	False		Somatic	0				CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V	p.A659V	NM_001206955.1	NP_001193884.1	WXS	Illumina HiSeq	Phase_I	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2360	+		Ovarian(110;0.156)	659			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1976C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630223	0.67015	0.0	2.33E-4	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.82923	2.615	0.80722	D	1	D;D;D	0.76494	0.99;0.996;0.999	P;P;D	0.66084	0.794;0.842;0.941	T	0.78974	-0.1992	10	0.87932	D	0	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	658;659;659	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	V	659;659;659;440;331;331	ENSP00000396010:A659V;ENSP00000380602:A659V;ENSP00000413642:A659V;ENSP00000351267:A440V;ENSP00000380600:A331V;ENSP00000392077:A331V	ENSP00000351267:A440V	A	+	2	0	CNTN4	3053896	1.000000	0.71417	0.886000	0.34754	0.119000	0.20118	5.923000	0.70045	2.572000	0.86782	0.655000	0.94253	GCG		0.498	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	0			3:3078896
ATP2A2	488	broad.mit.edu	37	12	110783101	110783101	+	Silent	SNP	G	G	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110783101G>C	ENST00000539276.2	+	18	2764	c.2655G>C	c.(2653-2655)gtG>gtC	p.V885V	ATP2A2_ENST00000395494.2_Silent_p.V858V|ATP2A2_ENST00000308664.6_Silent_p.V885V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	885					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TTGAAGGCGTGGATTGTGCAA	0.443																																						ENST00000395494.2		NA																	0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2572-2574)gtG>gtC		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							194.0	176.0	182.0					12																	110783101		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783101G>C		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2655G>C	12.37:g.110783101G>C		False	False		Somatic	0				ATP2A2_ENST00000539276.2_Silent_p.V885V|ATP2A2_ENST00000308664.6_Silent_p.V885V	p.V858V			WXS	Illumina HiSeq	Phase_I	P16615	AT2A2_HUMAN			17	3137	+			885					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.2574G>C	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226552	0.22542	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.49	2.35	0.29111	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31724	-0.9933	4	.	.	.	.	3.8067	0.08780	0.1464:0.1051:0.5553:0.1932	.	.	.	.	R	776	.	.	G	+	1	0	ATP2A2	109267484	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	0.226000	0.17776	0.730000	0.32425	-0.345000	0.07892	GGA		0.443	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	0	NM_001681		12:110783101
PANK2	80025	broad.mit.edu	37	20	3899375	3899375	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr20:3899375C>T	ENST00000316562.4	+	6	1600	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	PANK2_ENST00000610179.1_Missense_Mutation_p.R409W|MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000497424.1_Missense_Mutation_p.R241W	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	532			R -> W (in NBIA1). {ECO:0000269|PubMed:12510040}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GATCGCCATGCGGCTTTTGGC	0.388																																						ENST00000497424.1		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	GRCh37	CM033434	PANK2	M		c.(721-723)Cgg>Tgg		pantothenate kinase 2							201.0	198.0	199.0					20																	3899375		2203	4300	6503	SO:0001583	missense	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3899375C>T	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1594C>T	20.37:g.3899375C>T	ENSP00000313377:p.Arg532Trp	False	False		Somatic	0				PANK2_ENST00000610179.1_Missense_Mutation_p.R409W|PANK2_ENST00000316562.4_Missense_Mutation_p.R532W	p.R241W	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	WXS	Illumina HiSeq	Phase_I	Q9BZ23	PANK2_HUMAN			6	1032	+			532			Poly-Glu.		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	c.721C>T	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167626	0.78339	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99537	-6.11;-6.11	5.12	1.89	0.25635	.	0.058340	0.64402	D	0.000003	D	0.99083	0.9685	L	0.46819	1.47	0.36196	D	0.850384	D	0.89917	1.0	D	0.77557	0.99	D	0.99414	1.0931	10	0.87932	D	0	.	5.9846	0.19426	0.4537:0.4539:0.0:0.0925	.	532	Q9BZ23	PANK2_HUMAN	W	241;532;348	ENSP00000417609:R241W;ENSP00000313377:R532W	ENSP00000313377:R532W	R	+	1	2	PANK2	3847375	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.670000	0.74467	0.735000	0.32537	0.655000	0.94253	CGG		0.388	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	0	NM_024960		20:3899375
COG8	84342	broad.mit.edu	37	16	69368489	69368489	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:69368489G>A	ENST00000306875.4	-	3	1462	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	COG8_ENST00000562081.1_Missense_Mutation_p.R450C|RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.R96C	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	450					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CAGCAGAGGCGCAGATCATTG	0.592																																						ENST00000306875.4		NA																	0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(1348-1350)Cgc>Tgc		component of oligomeric golgi complex 8							60.0	57.0	58.0					16																	69368489		2198	4300	6498	SO:0001583	missense	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69368489G>A	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1348C>T	16.37:g.69368489G>A	ENSP00000305459:p.Arg450Cys	False	False		Somatic	0				COG8_ENST00000562081.1_Missense_Mutation_p.R450C|RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.R96C	p.R450C	NM_032382.4	NP_115758.3	WXS	Illumina HiSeq	Phase_I	Q96MW5	COG8_HUMAN			3	1462	-			450					Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	c.1348C>T	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301854	0.81136	.	.	ENSG00000213380	ENST00000306875	T	0.73363	-0.74	5.86	5.86	0.93980	.	0.098626	0.64402	D	0.000001	D	0.88209	0.6375	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88789	0.3276	10	0.87932	D	0	-1.6234	20.1931	0.98233	0.0:0.0:1.0:0.0	.	477;450	B4DYU2;Q96MW5	.;COG8_HUMAN	C	450	ENSP00000305459:R450C	ENSP00000305459:R450C	R	-	1	0	COG8	67925990	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.241000	0.72369	2.771000	0.95319	0.563000	0.77884	CGC		0.592	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	0	NM_032382		16:69368489
PLCE1	51196	broad.mit.edu	37	10	96018889	96018889	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:96018889G>A	ENST00000371380.3	+	12	4031	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PLCE1_ENST00000260766.3_Missense_Mutation_p.D1266N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1266					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAACACCAGCGATCTTCAGCC	0.468																																						ENST00000371380.3		NA																	0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3796-3798)Gat>Aat		phospholipase C, epsilon 1							170.0	166.0	167.0					10																	96018889		1988	4164	6152	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018889G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3796G>A	10.37:g.96018889G>A	ENSP00000360431:p.Asp1266Asn	False	False		Somatic	0				PLCE1_ENST00000260766.3_Missense_Mutation_p.D1266N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N	p.D1266N			WXS	Illumina HiSeq	Phase_I	Q9P212	PLCE1_HUMAN			12	4031	+		Colorectal(252;0.0458)	NA					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3796G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114130	0.56398	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.91	4.07	0.47477	.	0.307693	0.34725	N	0.003735	T	0.14874	0.0359	N	0.19112	0.55	0.36609	D	0.875091	P;P;B	0.40931	0.614;0.733;0.103	B;B;B	0.36766	0.08;0.232;0.032	T	0.13388	-1.0511	10	0.17369	T	0.5	.	12.3034	0.54887	0.1361:0.0:0.8639:0.0	.	1250;958;1266	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	1266;1266;958;958	ENSP00000260766:D1266N;ENSP00000360431:D1266N;ENSP00000360438:D958N;ENSP00000360426:D958N	ENSP00000260766:D1266N	D	+	1	0	PLCE1	96008879	1.000000	0.71417	0.016000	0.15963	0.889000	0.51656	6.412000	0.73303	0.843000	0.35070	0.555000	0.69702	GAT		0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	0	NM_016341		10:96018889
TGM4	7047	broad.mit.edu	37	3	44943132	44943132	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:44943132C>A	ENST00000296125.4	+	7	842	c.774C>A	c.(772-774)aaC>aaA	p.N258K	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	258					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGTACTACAACACGAAGCAGG	0.597																																						ENST00000296125.4		NA																	0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(772-774)aaC>aaA		transglutaminase 4	L-Glutamine(DB00130)						125.0	116.0	119.0					3																	44943132		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943132C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.774C>A	3.37:g.44943132C>A	ENSP00000296125:p.Asn258Lys	False	False		Somatic	0					p.N258K	NM_003241.3	NP_003232.2	WXS	Illumina HiSeq	Phase_I	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	7	842	+			258					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.774C>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.652828	0.00785	.	.	ENSG00000163810	ENST00000296125	T	0.47177	0.85	2.69	0.475	0.16774	Transglutaminase-like (1);	3.486220	0.04860	U	0.443878	T	0.13713	0.0332	N	0.00879	-1.12	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36696	-0.9737	10	0.02654	T	1	.	1.8406	0.03149	0.2425:0.2526:0.3829:0.122	.	258	P49221	TGM4_HUMAN	K	258	ENSP00000296125:N258K	ENSP00000296125:N258K	N	+	3	2	TGM4	44918136	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.024000	0.12435	0.409000	0.25649	0.563000	0.77884	AAC		0.597	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	0	NM_003241		3:44943132
PTPN14	5784	broad.mit.edu	37	1	214557484	214557484	+	Missense_Mutation	SNP	G	G	A	rs200947677		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:214557484G>A	ENST00000366956.5	-	13	1908	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	572	Poly-Pro.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGTCGTGGCCGTGGGTAGGGG	0.652																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5		NA																	0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1714-1716)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 14		G	TRP/ARG	0,4406		0,0,2203	42.0	46.0	45.0		1714	4.7	0.9	1		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTPN14	NM_005401.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	572/1188	214557484	1,13005	2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557484G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1714C>T	1.37:g.214557484G>A	ENSP00000355923:p.Arg572Trp	False	False		Somatic	0				PTPN14_ENST00000543945.1_3'UTR	p.R572W	NM_005401.4	NP_005392.2	WXS	Illumina HiSeq	Phase_I	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1908	-			572			Poly-Pro.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1714C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850976	0.71719	0.0	1.16E-4	ENSG00000152104	ENST00000366956	T	0.68765	-0.35	5.61	4.68	0.58851	.	0.194784	0.45606	D	0.000350	T	0.72162	0.3426	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	P	0.56434	0.798	T	0.72200	-0.4362	10	0.38643	T	0.18	.	16.3998	0.83635	0.0:0.0:0.8676:0.1324	.	572	Q15678	PTN14_HUMAN	W	572	ENSP00000355923:R572W	ENSP00000355923:R572W	R	-	1	2	PTPN14	212624107	0.883000	0.30277	0.857000	0.33713	0.992000	0.81027	3.487000	0.53222	1.482000	0.48325	0.650000	0.86243	CGG		0.652	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	0	NM_005401		1:214557484
IGHG2	3501	broad.mit.edu	37	14	106110036	106110036	+	RNA	SNP	G	G	A	rs587729802	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:106110036G>A	ENST00000390545.2	-	0	581							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										ACTCCTTGCCGTTCAGCCAGT	0.582													N|||	3	0.000599042	0.0	0.0	5008	,	,		23386	0.0		0.0	False		,,,				2504	0.0031					ENST00000390545.2		NA																	0					NA															231.0	223.0	226.0					14																	106110036		2164	4262	6426			0							g.chr14:106110036G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110036G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	581	-			NA					A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.582	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	0	NG_001019		14:106110036
SORCS2	57537	broad.mit.edu	37	4	7691260	7691260	+	Silent	SNP	C	C	T	rs541579051		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:7691260C>T	ENST00000507866.2	+	11	1645	c.1536C>T	c.(1534-1536)taC>taT	p.Y512Y	SORCS2_ENST00000329016.9_Silent_p.Y340Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	512					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACCCCTACGTATCAGGCA	0.592																																						ENST00000507866.2		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1534-1536)taC>taT		sortilin-related VPS10 domain containing receptor 2							38.0	42.0	40.0					4																	7691260		2137	4245	6382	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7691260C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1536C>T	4.37:g.7691260C>T		False	False		Somatic	0				SORCS2_ENST00000329016.9_Silent_p.Y340Y	p.Y512Y	NM_020777.2	NP_065828.2	WXS	Illumina HiSeq	Phase_I	Q96PQ0	SORC2_HUMAN			11	1645	+			512					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.1536C>T	CCDS47008.1																																																																																				0.592	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	0	NM_020777		4:7691260
CHD4	1108	broad.mit.edu	37	12	6715504	6715504	+	Silent	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:6715504C>A	ENST00000357008.2	-	2	199	c.36G>T	c.(34-36)tcG>tcT	p.S12S	CHD4_ENST00000309577.6_Silent_p.S12S|CHD4_ENST00000544040.1_Silent_p.S12S|CHD4_ENST00000544484.1_Silent_p.S12S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	12					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CACTGCCCGCCGAGCAGGGGG	0.672																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6		NA																	0				central_nervous_system(2)	2						c.(34-36)tcG>tcT		chromodomain helicase DNA binding protein 4							48.0	46.0	47.0					12																	6715504		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6715504C>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.36G>T	12.37:g.6715504C>A		False	False		Somatic	0				CHD4_ENST00000357008.2_Silent_p.S12S|CHD4_ENST00000544040.1_Silent_p.S12S|CHD4_ENST00000544484.1_Silent_p.S12S	p.S12S			WXS	Illumina HiSeq	Phase_I	Q14839	CHD4_HUMAN			2	199	-			12					Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.36G>T	CCDS8552.1																																																																																				0.672	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001273		12:6715504
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108.0	110.0	110.0					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val	False	False		Somatic	0					p.A304V	NM_002563.3	NP_002554.1	WXS	Illumina HiSeq	Phase_I	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	0	NM_002563		3:152554482
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_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)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
KMT2D	8085	broad.mit.edu	37	12	49426114	49426114	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:49426114G>A	ENST00000301067.7	-	39	12373	c.12374C>T	c.(12373-12375)tCt>tTt	p.S4125F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4125	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGAGGCCTCAGAAGATGATCC	0.607																																						ENST00000301067.7		NA																	0					NA						c.(12373-12375)tCt>tTt		lysine (K)-specific methyltransferase 2D							36.0	35.0	35.0					12																	49426114		2082	4229	6311	SO:0001583	missense	8085							g.chr12:49426114G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12374C>T	12.37:g.49426114G>A	ENSP00000301067:p.Ser4125Phe	False	False		Somatic	0					p.S4125F	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					39	12373	-			NA					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.12374C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	7.586	0.669733	0.14776	.	.	ENSG00000167548	ENST00000301067	T	0.80033	-1.33	4.0	4.0	0.46444	.	0.000000	0.37530	N	0.002050	T	0.73377	0.3579	N	0.08118	0	0.33818	D	0.628734	D	0.56968	0.978	P	0.54664	0.758	T	0.82460	-0.0446	10	0.87932	D	0	.	12.3368	0.55071	0.0:0.0:1.0:0.0	.	4125	O14686	MLL2_HUMAN	F	4125	ENSP00000301067:S4125F	ENSP00000301067:S4125F	S	-	2	0	MLL2	47712381	0.466000	0.25823	0.989000	0.46669	0.685000	0.39939	3.800000	0.55537	2.178000	0.69098	0.561000	0.74099	TCT		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49426114
HIST1H2BF	8343	broad.mit.edu	37	6	26200004	26200004	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:26200004G>A	ENST00000359985.1	+	1	257	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ATCTTCGAGCGCATCGCTGGC	0.607																																						ENST00000359985.1		NA																	0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(217-219)cGc>cAc		histone cluster 1, H2bf							160.0	151.0	154.0					6																	26200004		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200004G>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.218G>A	6.37:g.26200004G>A	ENSP00000353074:p.Arg73His	False	False		Somatic	0					p.R73H	NM_003522.3	NP_003513.1	WXS	Illumina HiSeq	Phase_I	P62807	H2B1C_HUMAN			1	257	+		all_hematologic(11;0.196)	73					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.218G>A	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.00	2.998290	0.54147	.	.	ENSG00000197846	ENST00000359985	T	0.69561	-0.41	3.89	3.89	0.44902	.	0.000000	0.41938	D	0.000785	T	0.69504	0.3118	.	.	.	0.36868	D	0.88877	.	.	.	.	.	.	T	0.73363	-0.4006	7	0.49607	T	0.09	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000353074:R73H	ENSP00000353074:R73H	R	+	2	0	HIST1H2BF	26307983	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.733000	0.84916	2.102000	0.63906	0.650000	0.86243	CGC		0.607	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	0	NM_003522		6:26200004
ZNF718	255403	broad.mit.edu	37	4	155843	155843	+	lincRNA	SNP	C	C	T	rs369590905		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:155843C>T	ENST00000510175.1	+	0	1278							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GTAAAGAATGCGGGAAAGCTT	0.358													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18833	0.0		0.0	False		,,,				2504	0.0					ENST00000510175.1		NA																	0					NA								zinc finger protein 718							29.0	32.0	31.0					4																	155843		2017	4213	6230			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155843C>T	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155843C>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	0	1278	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	NA					Q3SXZ4|Q3SXZ5	RNA	SNP	ENST00000510175.1	37																																																																																						0.358	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	0	NM_001039127		4:155843
FAM208B	54906	broad.mit.edu	37	10	5791188	5791188	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:5791188A>G	ENST00000328090.5	+	15	6429	c.5804A>G	c.(5803-5805)aAa>aGa	p.K1935R		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1935																	AAAGAACTCAAAGATACCATG	0.517																																						ENST00000328090.5		NA																	0					NA						c.(5803-5805)aAa>aGa		family with sequence similarity 208, member B							39.0	40.0	40.0					10																	5791188		2020	4169	6189	SO:0001583	missense	54906							g.chr10:5791188A>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5804A>G	10.37:g.5791188A>G	ENSP00000328426:p.Lys1935Arg	True	False		Somatic	0					p.K1935R	NM_017782.4	NP_060252	WXS	Illumina HiSeq	Phase_I	Q5VWN6	CJ018_HUMAN			15	6429	+			1935					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.5804A>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	7.769	0.707055	0.15239	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.06218	3.33	5.82	0.813	0.18749	.	0.665083	0.15027	N	0.284666	T	0.03695	0.0105	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.43766	-0.9371	10	0.28530	T	0.3	.	5.0489	0.14497	0.6201:0.1435:0.2365:0.0	.	1935	Q5VWN6	F208B_HUMAN	R	1935;1130	ENSP00000328426:K1935R	ENSP00000328426:K1935R	K	+	2	0	C10orf18	5831194	0.085000	0.21516	0.001000	0.08648	0.032000	0.12392	0.318000	0.19504	-0.098000	0.12285	0.460000	0.39030	AAA		0.517	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	0	NM_017782		10:5791188
OR2C3	81472	broad.mit.edu	37	1	247695055	247695055	+	Silent	SNP	G	G	A	rs529863004		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:247695055G>A	ENST00000366487.3	-	2	1120	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGATGCTCCCGTAAAACAGAG	0.547																																						ENST00000366487.3		NA																	0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(757-759)taC>taT		olfactory receptor, family 2, subfamily C, member 3							121.0	109.0	113.0					1																	247695055		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695055G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.759C>T	1.37:g.247695055G>A		True	False		Somatic	0				GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	p.Y253Y	NM_198074.4	NP_932340	WXS	Illumina HiSeq	Phase_I	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1120	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	253					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.759C>T	CCDS1634.2																																																																																				0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	0	NM_198074		1:247695055
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						ENST00000056217.5		NA																	5	Substitution - coding silent(5)	p.N336N(5)	endometrium(2)|lung(1)|prostate(1)|kidney(1)	breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)aaT>aaC		Rho guanine nucleotide exchange factor (GEF) 5		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C		False	False		Somatic	0					p.N336N	NM_005435.3	NP_005426.2	WXS	Illumina HiSeq	Phase_I	Q12774	ARHG5_HUMAN			2	1182	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	0	NM_005435		7:144060770
CPT1A	1374	broad.mit.edu	37	11	68562300	68562300	+	Missense_Mutation	SNP	C	C	T	rs144866081		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:68562300C>T	ENST00000265641.5	-	8	1005	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H|CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	284					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCCAGTTTGCGCCTGTAAAG	0.433																																						ENST00000265641.5		NA																	0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(850-852)cGc>cAc		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)	C	HIS/ARG,HIS/ARG	0,4400		0,0,2200	130.0	126.0	127.0		851,851	0.0	0.0	11	dbSNP_134	127	2,8586	2.2+/-6.3	0,2,4292	yes	missense,missense	CPT1A	NM_001031847.2,NM_001876.3	29,29	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	284/757,284/774	68562300	2,12986	2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68562300C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.851G>A	11.37:g.68562300C>T	ENSP00000265641:p.Arg284His	False	False		Somatic	0				CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H	p.R284H	NM_001876.3	NP_001867.2	WXS	Illumina HiSeq	Phase_I	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		8	1005	-	Esophageal squamous(3;3.28e-14)		284					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.851G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	9.445	1.089129	0.20390	0.0	2.33E-4	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.15	0.0249	0.14143	.	0.225561	0.41500	N	0.000876	D	0.84361	0.5455	L	0.60067	1.865	0.52501	D	0.999954	B;B;B	0.28933	0.03;0.037;0.228	B;B;B	0.28638	0.052;0.052;0.092	T	0.77983	-0.2382	10	0.44086	T	0.13	.	10.8556	0.46798	0.0:0.6036:0.0:0.3964	.	284;284;284	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	H	284	ENSP00000439084:R284H;ENSP00000365803:R284H;ENSP00000265641:R284H;ENSP00000446108:R284H	ENSP00000265641:R284H	R	-	2	0	CPT1A	68318876	0.244000	0.23889	0.012000	0.15200	0.140000	0.21249	0.769000	0.26604	0.201000	0.20466	0.655000	0.94253	CGC		0.433	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	0	NM_001876		11:68562300
CRIPAK	285464	broad.mit.edu	37	4	1388986	1388986	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:1388986G>A	ENST00000324803.4	+	1	3647	c.687G>A	c.(685-687)ccG>ccA	p.P229P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	229					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGGAGTGCCCGCCTGCTCACA	0.672																																						ENST00000324803.4		NA																	0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(685-687)ccG>ccA		cysteine-rich PAK1 inhibitor							166.0	128.0	141.0					4																	1388986		2184	4286	6470	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388986G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.687G>A	4.37:g.1388986G>A		True	False		Somatic	0					p.P229P	NM_175918.3	NP_787114.2	WXS	Illumina HiSeq	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3647	+			229					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.687G>A	CCDS3349.1																																																																																				0.672	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	0	NM_175918		4:1388986
FNDC7	163479	broad.mit.edu	37	1	109270590	109270590	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:109270590G>A	ENST00000370017.3	+	7	1549	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	FNDC7_ENST00000271311.2_Silent_p.S425S	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	424	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GCACCCTTTCGGCTCTAGAGT	0.483																																						ENST00000370017.3		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1270-1272)tcG>tcA		fibronectin type III domain containing 7							242.0	208.0	219.0					1																	109270590		2203	4300	6503	SO:0001819	synonymous_variant	163479					extracellular region		g.chr1:109270590G>A		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1272G>A	1.37:g.109270590G>A		False	False		Somatic	0				FNDC7_ENST00000271311.2_Silent_p.S425S	p.S424S	NM_001144937.1	NP_001138409.1	WXS	Illumina HiSeq	Phase_I	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	7	1549	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	425			Fibronectin type-III 5.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	c.1272G>A	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	G	6.401	0.442051	0.12164	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.24661	0.0598	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56745	-0.7928	4	.	.	.	-10.2511	7.5534	0.27810	0.1:0.0588:0.4515:0.3897	.	.	.	.	S	200	.	.	G	+	1	0	FNDC7	109072113	0.000000	0.05858	0.062000	0.19696	0.789000	0.44602	-3.528000	0.00441	-3.670000	0.00123	-1.036000	0.02392	GGC		0.483	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	0	NM_173532		1:109270590
KRT32	3882	broad.mit.edu	37	17	39619177	39619177	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:39619177C>T	ENST00000225899.3	-	6	1225	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	374	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTGGTTCTGCCGCTCCAGGT	0.647																																						ENST00000225899.3		NA																	0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1120-1122)cgG>cgA		keratin 32							78.0	77.0	78.0					17																	39619177		2203	4300	6503	SO:0001819	synonymous_variant	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39619177C>T	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1122G>A	17.37:g.39619177C>T		False	False		Somatic	0					p.R374R	NM_002278.3	NP_002269.3	WXS	Illumina HiSeq	Phase_I	Q14532	K1H2_HUMAN			6	1225	-		Breast(137;0.000812)	374			Coil 2.|Rod.			Silent	SNP	ENST00000225899.3	37	c.1122G>A	CCDS11393.1																																																																																				0.647	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	0	NM_002278		17:39619177
SLC8A3	6547	broad.mit.edu	37	14	70634978	70634978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:70634978G>T	ENST00000381269.2	-	2	915	c.162C>A	c.(160-162)tgC>tgA	p.C54*	SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	54					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACCCTCCTTGCAGTCCGATG	0.542																																						ENST00000381269.2		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(160-162)tgC>tgA		solute carrier family 8 (sodium/calcium exchanger), member 3							72.0	60.0	64.0					14																	70634978		2203	4300	6503	SO:0001587	stop_gained	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634978G>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.162C>A	14.37:g.70634978G>T	ENSP00000370669:p.Cys54*	False	False		Somatic	0				SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54*	p.C54*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	WXS	Illumina HiSeq	Phase_I	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	915	-			54					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Nonsense_Mutation	SNP	ENST00000381269.2	37	c.162C>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790219	0.90367	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	.	.	.	4.84	1.96	0.26148	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5618	0.33516	0.3052:0.0:0.6948:0.0	.	.	.	.	X	54	.	ENSP00000349392:C54X	C	-	3	2	SLC8A3	69704731	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.591000	0.53986	0.645000	0.30675	-0.251000	0.11542	TGC		0.542	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1	0			14:70634978
ZBED9	114821	broad.mit.edu	37	6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373																																						ENST00000452236.2		NA																	0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1219-1221)Cgg>Tgg		SCAN domain containing 3							47.0	50.0	49.0					6																	28543263		2200	4300	6500	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543263G>A																												ENST00000452236.2:c.1219C>T	6.37:g.28543263G>A	ENSP00000395259:p.Arg407Trp	False	False		Somatic	0					p.R407W	NM_052923.1	NP_443155.1	WXS	Illumina HiSeq	Phase_I	Q6R2W3	SCND3_HUMAN			3	1836	-			407			Integrase catalytic.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1219C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739153	0.49045	.	.	ENSG00000232040	ENST00000452236	T	0.41065	1.01	3.45	1.47	0.22746	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.45538	0.1347	M	0.71581	2.175	0.27885	N	0.939548	D	0.89917	1.0	D	0.75020	0.985	T	0.29027	-1.0025	9	0.87932	D	0	.	9.1527	0.36973	0.0:0.0:0.3848:0.6152	.	407	Q6R2W3	SCND3_HUMAN	W	407	ENSP00000395259:R407W	ENSP00000395259:R407W	R	-	1	2	SCAND3	28651242	0.490000	0.26012	0.999000	0.59377	0.981000	0.71138	0.152000	0.16302	0.208000	0.20626	0.655000	0.94253	CGG		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	0			6:28543263
TAF5L	27097	broad.mit.edu	37	1	229730353	229730353	+	Silent	SNP	G	G	A	rs191870723		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:229730353G>A	ENST00000366676.1	-	4	1460	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	TAF5L_ENST00000258281.2_Silent_p.G487G			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	487					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTGGTCCTCGCCAGCAGACG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18580	0.001		0.0	False		,,,				2504	0.0					ENST00000258281.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(1459-1461)ggC>ggT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa		G		0,4406		0,0,2203	70.0	73.0	72.0		1461	-3.2	0.9	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAF5L	NM_014409.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		487/590	229730353	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730353G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1461C>T	1.37:g.229730353G>A		False	False		Somatic	0				TAF5L_ENST00000366676.1_Silent_p.G487G	p.G487G	NM_014409.3	NP_055224.1	WXS	Illumina HiSeq	Phase_I	O75529	TAF5L_HUMAN			5	1626	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	487					Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.1461C>T	CCDS1581.1																																																																																				0.577	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	0	NM_014409		1:229730353
HS3ST4	9951	broad.mit.edu	37	16	26147120	26147120	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:26147120A>G	ENST00000331351.5	+	2	1314	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	308					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAAACCCGAGATCCCCACCTT	0.542																																						ENST00000331351.5		NA																	0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(922-924)Atc>Gtc		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							156.0	149.0	151.0					16																	26147120		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147120A>G	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.922A>G	16.37:g.26147120A>G	ENSP00000330606:p.Ile308Val	False	False		Somatic	0				HS3ST4_ENST00000475436.1_3'UTR	p.I308V	NM_006040.2	NP_006031.2	WXS	Illumina HiSeq	Phase_I	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1314	+			308					Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.922A>G	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273903	0.59649	.	.	ENSG00000182601	ENST00000331351	T	0.81415	-1.49	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.82545	0.5060	L	0.55017	1.72	0.47094	D	0.999317	P	0.35944	0.529	P	0.46940	0.532	T	0.81120	-0.1077	10	0.35671	T	0.21	.	14.5047	0.67746	1.0:0.0:0.0:0.0	.	308	Q9Y661	HS3S4_HUMAN	V	308	ENSP00000330606:I308V	ENSP00000330606:I308V	I	+	1	0	HS3ST4	26054621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.265000	0.78442	2.015000	0.59207	0.533000	0.62120	ATC		0.542	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	0	NM_006040		16:26147120
SGOL2	151246	broad.mit.edu	37	2	201437658	201437658	+	Silent	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:201437658A>G	ENST00000357799.4	+	7	2687	c.2589A>G	c.(2587-2589)caA>caG	p.Q863Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	863					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.Q863H(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATGAATTTCAAACAGTTGATC	0.318																																						ENST00000357799.4		NA																	1	Substitution - Missense(1)	p.Q863H(1)	lung(1)	NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2587-2589)caA>caG		shugoshin-like 2 (S. pombe)							84.0	83.0	83.0					2																	201437658		1801	4063	5864	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437658A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2589A>G	2.37:g.201437658A>G		True	False		Somatic	0					p.Q863Q	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	WXS	Illumina HiSeq	Phase_I	Q562F6	SGOL2_HUMAN			7	2687	+			863					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.2589A>G	CCDS42796.1																																																																																				0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	NM_152524		2:201437658
MUSK	4593	broad.mit.edu	37	9	113431242	113431242	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:113431242G>A	ENST00000374448.4	+	1	192	c.58G>A	c.(58-60)Gga>Aga	p.G20R	MUSK_ENST00000416899.2_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R|MUSK_ENST00000374440.3_5'UTR	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	20					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCCTTCAGCGGAACTGAGAA	0.438																																						ENST00000416899.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(58-60)Gga>Aga		muscle, skeletal, receptor tyrosine kinase							330.0	317.0	321.0					9																	113431242		1901	4123	6024	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113431242G>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.58G>A	9.37:g.113431242G>A	ENSP00000363571:p.Gly20Arg	False	False		Somatic	0				MUSK_ENST00000374448.4_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R|MUSK_ENST00000374440.3_5'UTR	p.G20R			WXS	Illumina HiSeq	Phase_I	O15146	MUSK_HUMAN			1	184	+			20					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.58G>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497875	0.44455	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.73469	-0.75	5.18	3.3	0.37823	.	0.381500	0.22739	N	0.056228	T	0.58452	0.2123	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.965;0.994	B;P	0.50314	0.387;0.637	T	0.56523	-0.7965	10	0.13470	T	0.59	.	2.5396	0.04722	0.0967:0.1995:0.4509:0.2529	.	20;20	O15146;F5H6T2	MUSK_HUMAN;.	R	20	ENSP00000363571:G20R	ENSP00000189978:G20R	G	+	1	0	MUSK	112471063	0.957000	0.32711	1.000000	0.80357	0.773000	0.43773	0.060000	0.14342	1.205000	0.43262	-0.252000	0.11476	GGA		0.438	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0			9:113431242
USP37	57695	broad.mit.edu	37	2	219321859	219321859	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:219321859C>A	ENST00000258399.3	-	24	3081	c.2669G>T	c.(2668-2670)cGg>cTg	p.R890L	USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000454775.1_Missense_Mutation_p.R890L|USP37_ENST00000418019.1_Missense_Mutation_p.R890L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	890	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACTGATGAGCCGGTACGAATG	0.353																																						ENST00000258399.3		NA																	0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(2668-2670)cGg>cTg		ubiquitin specific peptidase 37							97.0	87.0	90.0					2																	219321859		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219321859C>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2669G>T	2.37:g.219321859C>A	ENSP00000258399:p.Arg890Leu	False	False		Somatic	0				USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000454775.1_Missense_Mutation_p.R890L|USP37_ENST00000418019.1_Missense_Mutation_p.R890L	p.R890L	NM_020935.2	NP_065986	WXS	Illumina HiSeq	Phase_I	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	24	3081	-		Renal(207;0.0915)	890					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2669G>T	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562263	0.86335	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	M	0.68317	2.08	0.80722	D	1	B;B	0.25904	0.112;0.137	B;B	0.26094	0.039;0.066	T	0.39643	-0.9604	10	0.87932	D	0	-8.6172	17.4426	0.87569	0.0:1.0:0.0:0.0	.	796;890	Q86T82-2;Q86T82	.;UBP37_HUMAN	L	890;890;796;890	ENSP00000258399:R890L;ENSP00000393662:R890L;ENSP00000400902:R796L;ENSP00000396585:R890L	ENSP00000258399:R890L	R	-	2	0	USP37	219030103	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.827000	0.69300	2.327000	0.79052	0.655000	0.94253	CGG		0.353	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	0	NM_020935		2:219321859
TNPO2	30000	broad.mit.edu	37	19	12826533	12826533	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:12826533C>T	ENST00000592287.1	-	5	454	c.346G>A	c.(346-348)Gct>Act	p.A116T	TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T|TNPO2_ENST00000425528.1_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	116					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCTTGGAAGCGATGGTGGTG	0.632																																						ENST00000425528.1		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(346-348)Gct>Act		transportin 2							41.0	47.0	45.0					19																	12826533		2074	4210	6284	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12826533C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.346G>A	19.37:g.12826533C>T	ENSP00000468434:p.Ala116Thr	False	False		Somatic	0				TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000592287.1_Missense_Mutation_p.A116T	p.A116T			WXS	Illumina HiSeq	Phase_I	O14787	TNPO2_HUMAN			6	703	-			116					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.346G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203182	0.58234	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.050139	0.85682	D	0.000000	T	0.70064	0.3181	M	0.76433	2.335	0.58432	D	0.999999	B;B	0.30482	0.281;0.246	B;B	0.19148	0.024;0.019	T	0.69446	-0.5143	10	0.39692	T	0.17	-24.7164	18.0522	0.89353	0.0:1.0:0.0:0.0	.	280;116	Q4LE60;O14787	.;TNPO2_HUMAN	T	280;116;116;116;116;116;116	ENSP00000407182:A116T;ENSP00000389648:A116T;ENSP00000397379:A116T;ENSP00000349321:A116T	ENSP00000349321:A116T	A	-	1	0	TNPO2	12687533	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.330000	0.59266	2.563000	0.86464	0.555000	0.69702	GCT		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	0	NM_013433		19:12826533
CCT6P3	643180	broad.mit.edu	37	7	64530103	64530103	+	RNA	SNP	G	G	A	rs369683052		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:64530103G>A	ENST00000426828.1	+	0	923				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TGACTGCTTGGGACATGCAGG	0.388																																						ENST00000426828.1		NA																	0					NA																																														0							g.chr7:64530103G>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64530103G>A		True	False		Somatic	0						NR_033416.1		WXS	Illumina HiSeq	Phase_I					0	923	+			NA						RNA	SNP	ENST00000426828.1	37																																																																																						0.388	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1	0			7:64530103
ZNF254	9534	broad.mit.edu	37	19	24309874	24309874	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:24309874G>T	ENST00000357002.4	+	4	1187	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	ZNF254_ENST00000342944.6_Missense_Mutation_p.A273S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	358					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAAGCTTTTAGCCA	0.398																																						ENST00000357002.4		NA																	0					NA						c.(1072-1074)Gct>Tct		zinc finger protein 254							59.0	60.0	60.0					19																	24309874		2200	4293	6493	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309874G>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1072G>T	19.37:g.24309874G>T	ENSP00000349494:p.Ala358Ser	True	False		Somatic	0				ZNF254_ENST00000342944.6_Missense_Mutation_p.A273S	p.A358S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	WXS	Illumina HiSeq	Phase_I	O75437	ZN254_HUMAN			4	1187	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	358					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1072G>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599489	0.46318	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35973	1.28;1.28	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32436	0.0829	N	0.13198	0.31	0.09310	N	1	D	0.65815	0.995	P	0.62184	0.899	T	0.10497	-1.0627	9	0.52906	T	0.07	.	3.4424	0.07468	0.2942:0.0:0.7058:0.0	.	358	O75437	ZN254_HUMAN	S	273;358	ENSP00000445527:A273S;ENSP00000349494:A358S	ENSP00000445527:A273S	A	+	1	0	ZNF254	24101714	0.000000	0.05858	0.018000	0.16275	0.625000	0.37756	-1.341000	0.02647	0.525000	0.28522	0.298000	0.19748	GCT		0.398	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	0	NM_004876		19:24309874
CYLC1	1538	broad.mit.edu	37	X	83129622	83129622	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:83129622C>A	ENST00000329312.4	+	4	1943	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	636	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACCTCCAAAACCAAGATATGC	0.383																																						ENST00000329312.4		NA																	0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1906-1908)Cca>Aca		cylicin, basic protein of sperm head cytoskeleton 1							63.0	54.0	57.0					X																	83129622		2202	4299	6501	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129622C>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1906C>A	X.37:g.83129622C>A	ENSP00000331556:p.Pro636Thr	True	False		Somatic	0					p.P636T	NM_021118.1	NP_066941.1	WXS	Illumina HiSeq	Phase_I	P35663	CYLC1_HUMAN			4	1943	+			636			Pro-rich.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1906C>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	7.831	0.719819	0.15372	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.54071	0.59	3.48	2.6	0.31112	.	.	.	.	.	T	0.48223	0.1488	L	0.34521	1.04	0.20489	N	0.999899	P;D	0.62365	0.603;0.991	B;P	0.50659	0.397;0.647	T	0.32322	-0.9911	9	0.66056	D	0.02	-4.5343	8.0054	0.30321	0.0:0.7561:0.2439:0.0	.	636;636	P35663;F5H4V5	CYLC1_HUMAN;.	T	636	ENSP00000331556:P636T	ENSP00000331556:P636T	P	+	1	0	CYLC1	83016278	0.996000	0.38824	1.000000	0.80357	0.463000	0.32649	0.517000	0.22832	0.813000	0.34350	0.513000	0.50165	CCA		0.383	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	0	NM_021118		X:83129622
DRD5	1816	broad.mit.edu	37	4	9784063	9784063	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:9784063A>G	ENST00000304374.2	+	1	806	c.410A>G	c.(409-411)gAc>gGc	p.D137G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	137					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.D137G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATCAGCGTGGACCGCTACTGG	0.612																																						ENST00000304374.2		NA																	1	Substitution - Missense(1)	p.D137G(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(409-411)gAc>gGc		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						42.0	40.0	41.0					4																	9784063		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784063A>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.410A>G	4.37:g.9784063A>G	ENSP00000306129:p.Asp137Gly	False	False		Somatic	0					p.D137G	NM_000798.4	NP_000789.1	WXS	Illumina HiSeq	Phase_I	P21918	DRD5_HUMAN			1	806	+			137					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.410A>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	20.6	4.025892	0.75390	.	.	ENSG00000169676	ENST00000304374	D	0.85702	-2.02	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94922	0.8358	H	0.98111	4.15	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.96259	0.9189	10	0.87932	D	0	.	12.8864	0.58047	1.0:0.0:0.0:0.0	.	137	P21918	DRD5_HUMAN	G	137	ENSP00000306129:D137G	ENSP00000306129:D137G	D	+	2	0	DRD5	9393161	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.708000	0.91372	1.824000	0.53156	0.254000	0.18369	GAC		0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1	0			4:9784063
SRRT	51593	broad.mit.edu	37	7	100484755	100484755	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:100484755C>T	ENST00000347433.4	+	15	2067	c.1909C>T	c.(1909-1911)Ccc>Tcc	p.P637S	SRRT_ENST00000388793.4_Missense_Mutation_p.P636S|SRRT_ENST00000457580.2_Missense_Mutation_p.P637S|SRRT_ENST00000432932.1_Missense_Mutation_p.P636S			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	637					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGACGAGATGCCCAATCGCTG	0.572																																						ENST00000388793.4		NA																	0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1906-1908)Ccc>Tcc		serrate RNA effector molecule homolog (Arabidopsis)							151.0	139.0	144.0					7																	100484755		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100484755C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1909C>T	7.37:g.100484755C>T	ENSP00000314491:p.Pro637Ser	True	False		Somatic	0				SRRT_ENST00000347433.4_Missense_Mutation_p.P637S|SRRT_ENST00000432932.1_Missense_Mutation_p.P636S|SRRT_ENST00000457580.2_Missense_Mutation_p.P637S	p.P636S	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	WXS	Illumina HiSeq	Phase_I	Q9BXP5	SRRT_HUMAN			15	2126	+			637					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1906C>T	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594904	0.86953	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	5.23	5.23	0.72850	Arsenite-resistance protein 2 (1);	0.052808	0.85682	D	0.000000	T	0.80869	0.4706	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.998;0.999	D	0.83939	0.0310	9	0.87932	D	0	.	16.2709	0.82618	0.0:1.0:0.0:0.0	.	636;636;637;637	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	S	637;636;2;636;637;267	.	ENSP00000344670:P2S	P	+	1	0	SRRT	100322691	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.200000	0.77838	2.424000	0.82194	0.462000	0.41574	CCC		0.572	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	0	NM_015908		7:100484755
LRRC27	80313	broad.mit.edu	37	10	134165170	134165170	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:134165170C>T	ENST00000368614.3	+	7	1091	c.986C>T	c.(985-987)gCg>gTg	p.A329V	LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000392638.2_Nonsense_Mutation_p.R361*|LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TACCAAATGGCGATCCGAGCA	0.522																																						ENST00000392638.2		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1081-1083)Cga>Tga		leucine rich repeat containing 27							125.0	136.0	132.0					10																	134165170		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134165170C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.986C>T	10.37:g.134165170C>T	ENSP00000357603:p.Ala329Val	False	False		Somatic	0				LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000368614.3_Missense_Mutation_p.A329V	p.R361*			WXS	Illumina HiSeq	Phase_I	Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1276	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Nonsense_Mutation	SNP	ENST00000368614.3	37	c.1081C>T	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.464280|4.464280	0.84425|0.84425	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000392638;ENST00000344079	T;T;T;T;T;T|.	0.42513|.	2.69;2.59;2.59;4.35;4.35;0.97|.	4.25|4.25	-8.49|-8.49	0.00931|0.00931	.|.	4.873430|.	0.00508|.	N|.	0.000163|.	T|.	0.09423|.	0.0232|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.28470|.	0.048;0.093;0.213;0.136|.	B;B;B;B|.	0.25405|.	0.024;0.044;0.06;0.016|.	T|.	0.10451|.	-1.0629|.	9|.	0.05436|0.02654	T|T	0.98|1	-0.0569|-0.0569	3.4252|3.4252	0.07408|0.07408	0.1986:0.4722:0.1832:0.146|0.1986:0.4722:0.1832:0.146	.|.	329;202;267;329|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9|.	.;.;.;LRC27_HUMAN|.	V|X	329;329;329;267;267;202|361	ENSP00000357604:A329V;ENSP00000357603:A329V;ENSP00000357602:A329V;ENSP00000357601:A267V;ENSP00000357599:A267V;ENSP00000407949:A202V|.	ENSP00000357599:A267V|ENSP00000342641:R361X	A|R	+|+	2|1	0|2	LRRC27|LRRC27	134015160|134015160	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.914000|-3.914000	0.00335|0.00335	-3.621000|-3.621000	0.00131|0.00131	-1.080000|-1.080000	0.02220|0.02220	GCG|CGA		0.522	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	0	XM_290462		10:134165170
ARHGEF17	9828	broad.mit.edu	37	11	73067381	73067381	+	Silent	SNP	C	C	T	rs113094822	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:73067381C>T	ENST00000263674.3	+	6	4175	c.3825C>T	c.(3823-3825)atC>atT	p.I1275I	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1275					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGGCTCACATCGAGGGCATGG	0.647																																						ENST00000263674.3		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(3823-3825)atC>atT		Rho guanine nucleotide exchange factor (GEF) 17							70.0	48.0	55.0					11																	73067381		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73067381C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3825C>T	11.37:g.73067381C>T		False	False		Somatic	0					p.I1275I	NM_014786.3	NP_055601.2	WXS	Illumina HiSeq	Phase_I	Q96PE2	ARHGH_HUMAN			6	4175	+			1275					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.3825C>T	CCDS8221.1																																																																																				0.647	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	0	NM_014786		11:73067381
HTR2C	3358	broad.mit.edu	37	X	114141583	114141583	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:114141583T>G	ENST00000276198.1	+	6	1710	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	328	Agonist binding. {ECO:0000250}.				behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGCCCATTTTTCATTACCAA	0.403																																						ENST00000276198.1		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(982-984)Ttc>Gtc		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						202.0	179.0	187.0					X																	114141583		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141583T>G		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.982T>G	X.37:g.114141583T>G	ENSP00000276198:p.Phe328Val	True	False		Somatic	0				HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V|HTR2C_ENST00000371950.3_3'UTR	p.F328V	NM_000868.2	NP_000859.1	WXS	Illumina HiSeq	Phase_I	P28335	5HT2C_HUMAN			6	1710	+			328					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.982T>G	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525410	0.64747	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.38240	1.15;1.15	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.231260	0.43579	D	0.000553	T	0.70482	0.3229	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79804	-0.1649	10	0.87932	D	0	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	328	P28335	5HT2C_HUMAN	V	328	ENSP00000276198:F328V;ENSP00000361019:F328V	ENSP00000276198:F328V	F	+	1	0	HTR2C	114047839	1.000000	0.71417	0.985000	0.45067	0.632000	0.37999	7.934000	0.87649	1.827000	0.53221	0.381000	0.24937	TTC		0.403	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	0	NM_000868		X:114141583
LAMP2	3920	broad.mit.edu	37	X	119575595	119575595	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:119575595C>T	ENST00000200639.4	-	8	1219	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000540603.1_Silent_p.K314K|LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000371335.4_Silent_p.K361K			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	361	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGTAGAATACTTTCCTTGTG	0.343																																						ENST00000371335.4		NA																	0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(1081-1083)aaG>aaA		lysosomal-associated membrane protein 2							115.0	105.0	108.0					X																	119575595		2203	4300	6503	SO:0001819	synonymous_variant	0				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119575595C>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1083G>A	X.37:g.119575595C>T		True	False		Somatic	0				LAMP2_ENST00000200639.4_Silent_p.K361K|LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000540603.1_Silent_p.K314K	p.K361K	NM_013995.2	NP_054701.1	WXS	Illumina HiSeq	Phase_I	P13473	LAMP2_HUMAN			8	1219	-			361			Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	c.1083G>A	CCDS14599.1																																																																																				0.343	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1	0			X:119575595
CES1	1066	broad.mit.edu	37	16	55860205	55860205	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:55860205C>A	ENST00000361503.4	-	3	390	c.260G>T	c.(259-261)tGc>tTc	p.C87F	CES1_ENST00000360526.3_Missense_Mutation_p.C88F|CES1_ENST00000422046.2_Missense_Mutation_p.C87F|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	87					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.C88Y(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	ATCTTGGGTGCACCTGGGGAG	0.502																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2		NA																	1	Substitution - Missense(1)	p.C88Y(1)	kidney(1)		NA						c.(259-261)tGc>tTc		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						100.0	123.0	115.0					16																	55860205		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55860205C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.260G>T	16.37:g.55860205C>A	ENSP00000355193:p.Cys87Phe	False	False		Somatic	0				CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.C88F|CES1_ENST00000361503.4_Missense_Mutation_p.C87F	p.C87F			WXS	Illumina HiSeq	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	3	541	-			87					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.260G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	15.08	2.726717	0.48833	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	D;D;D	0.82984	-1.67;-1.67;-1.67	4.7	4.7	0.59300	Carboxylesterase, type B (1);	0.000000	0.53938	D	0.000048	D	0.93766	0.8007	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.979	D	0.95644	0.8701	10	0.87932	D	0	.	15.1814	0.72962	0.0:1.0:0.0:0.0	rs5023782	87;87;88	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	F	88;87;87	ENSP00000353720:C88F;ENSP00000355193:C87F;ENSP00000390492:C87F	ENSP00000353720:C88F	C	-	2	0	CES1	54417706	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	6.453000	0.73488	2.196000	0.70406	0.400000	0.26472	TGC		0.502	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	0	NM_001266		16:55860205
AQP9	366	broad.mit.edu	37	15	58476236	58476236	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:58476236C>G	ENST00000219919.4	+	6	1160	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V|AQP9_ENST00000536493.1_Missense_Mutation_p.L264V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	264					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CATCTATGTTCTTGTCATTGA	0.433																																						ENST00000219919.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(790-792)Ctt>Gtt		aquaporin 9							171.0	166.0	168.0					15																	58476236		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58476236C>G	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.790C>G	15.37:g.58476236C>G	ENSP00000219919:p.Leu264Val	False	False		Somatic	0				ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V|AQP9_ENST00000536493.1_Missense_Mutation_p.L264V	p.L264V	NM_020980.3	NP_066190.2	WXS	Illumina HiSeq	Phase_I	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	6	1160	+			264					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.790C>G	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	9.853	1.194115	0.22037	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.12465	2.68;2.68	5.31	-0.166	0.13351	Aquaporin-like (2);	0.479864	0.18495	N	0.139524	T	0.05044	0.0135	N	0.08118	0	0.09310	N	0.999999	B	0.24576	0.106	B	0.23852	0.049	T	0.34378	-0.9831	10	0.28530	T	0.3	.	3.1734	0.06560	0.1104:0.4588:0.2167:0.2141	.	264	O43315	AQP9_HUMAN	V	264	ENSP00000219919:L264V;ENSP00000441390:L264V	ENSP00000219919:L264V	L	+	1	0	AQP9	56263528	0.003000	0.15002	0.001000	0.08648	0.991000	0.79684	0.074000	0.14662	0.095000	0.17434	0.655000	0.94253	CTT		0.433	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	0	NM_020980		15:58476236
BRINP1	1620	broad.mit.edu	37	9	121929760	121929760	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:121929760G>A	ENST00000265922.3	-	8	2349	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	630					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GTCTCATTTCGCAGTAGGGTA	0.537																																						ENST00000265922.3		NA																	0					NA						c.(1888-1890)Cga>Tga		bone morphogenetic protein/retinoic acid inducible neural-specific 1							138.0	133.0	135.0					9																	121929760		2203	4300	6503	SO:0001587	stop_gained	1620							g.chr9:121929760G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1888C>T	9.37:g.121929760G>A	ENSP00000265922:p.Arg630*	False	False		Somatic	0				BRINP1_ENST00000482797.1_Intron	p.R630*	NM_014618.2	NP_055433.2	WXS	Illumina HiSeq	Phase_I					8	2349	-			630					Q6IPV6|Q6P1A0|Q8WU22	Nonsense_Mutation	SNP	ENST00000265922.3	37	c.1888C>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	40	8.207716	0.98706	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	.	.	.	5.09	4.12	0.48240	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-10.6226	14.6366	0.68694	0.0:0.0:0.8539:0.1461	.	.	.	.	X	630	.	ENSP00000265922:R630X	R	-	1	2	DBC1	120969581	1.000000	0.71417	0.953000	0.39169	0.850000	0.48378	4.600000	0.61083	2.540000	0.85666	0.655000	0.94253	CGA		0.537	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	0	NM_014618		9:121929760
FUBP1	8880	broad.mit.edu	37	1	78430650	78430650	+	Silent	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:78430650G>T	ENST00000370768.2	-	9	721	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	FUBP1_ENST00000370767.1_Silent_p.R214R|FUBP1_ENST00000436586.2_Silent_p.R235R	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	214	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ACTCCAGCCCGTTCCTGTTAC	0.358			"""F, N"""		oligodendroglioma																																	ENST00000370767.1		NA		Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(640-642)Cgg>Agg		far upstream element (FUSE) binding protein 1							73.0	79.0	77.0					1																	78430650		2203	4300	6503	SO:0001819	synonymous_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430650G>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.640C>A	1.37:g.78430650G>T		True	False		Somatic	0				FUBP1_ENST00000370768.2_Silent_p.R214R|FUBP1_ENST00000436586.2_Silent_p.R235R	p.R214R			WXS	Illumina HiSeq	Phase_I	Q96AE4	FUBP1_HUMAN			9	727	-			214			KH 2.		Q12828	Silent	SNP	ENST00000370768.2	37	c.640C>A	CCDS683.1																																																																																				0.358	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	0	NM_003902		1:78430650
SHC1	6464	broad.mit.edu	37	1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	rs371992948	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:154940985C>T	ENST00000368445.5	-	4	950	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		19286	0.001		0.0	False		,,,				2504	0.001				NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(736-738)Gca>Aca		SHC (Src homology 2 domain containing) transforming protein 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	192.0	202.0	199.0		736,406,271,406,736	5.4	1.0	1		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	246/585,136/474,91/429,136/475,246/584	154940985	1,13005	2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154940985C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.736G>A	1.37:g.154940985C>T	ENSP00000357430:p.Ala246Thr	False	False		Somatic	0				SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T	p.A246T	NM_001130040.1	NP_001123512.1	WXS	Illumina HiSeq	Phase_I	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	956	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		246			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.736G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827512	0.50845	0.0	1.16E-4	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442	T;T;T;T;T;T;T;T;T	0.32272	2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.124032	0.53938	D	0.000045	T	0.07143	0.0181	N	0.11000	0.08	0.33533	D	0.593833	B;B;B	0.32829	0.386;0.023;0.029	B;B;B	0.29524	0.103;0.009;0.016	T	0.19031	-1.0318	10	0.23891	T	0.37	.	12.4188	0.55508	0.283:0.717:0.0:0.0	.	25;246;246	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	246;246;47;136;136;182;17;17;136;136	ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T	ENSP00000396162:A136T	A	-	1	0	SHC1	153207609	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	2.555000	0.86185	0.467000	0.42956	GCA		0.552	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	0	NM_183001		1:154940985
RXRG	6258	broad.mit.edu	37	1	165376097	165376097	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:165376097G>A	ENST00000359842.5	-	9	1498	c.1196C>T	c.(1195-1197)gCc>gTc	p.A399V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	399	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CTCAAGGGTGGCATAAACCTT	0.522																																						ENST00000359842.5		NA																	0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(1195-1197)gCc>gTc		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						187.0	148.0	161.0					1																	165376097		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165376097G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1196C>T	1.37:g.165376097G>A	ENSP00000352900:p.Ala399Val	False	False		Somatic	0					p.A399V	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	WXS	Illumina HiSeq	Phase_I	P48443	RXRG_HUMAN			9	1498	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		399			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.1196C>T	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869333	0.91587	.	.	ENSG00000143171	ENST00000359842	D	0.96802	-4.13	4.24	4.24	0.50183	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	L	0.50847	1.595	0.80722	D	1.000000	D	0.76494	0.999	D	0.76575	0.988	D	0.95762	0.8801	9	0.38643	T	0.18	.	15.7167	0.77672	0.0:0.0:1.0:0.0	.	399	P48443	RXRG_HUMAN	V	399	ENSP00000352900:A399V	ENSP00000352900:A399V	A	-	2	0	RXRG	163642721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.336000	0.96533	2.332000	0.79248	0.563000	0.77884	GCC		0.522	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	0	NM_006917		1:165376097
BCL6	604	broad.mit.edu	37	3	187447157	187447157	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:187447157C>T	ENST00000406870.2	-	5	1402	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.E346K	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	346					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGCAGGACTCTGTGGGCGAG	0.587			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2		NA		Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1036-1038)Gag>Aag		B-cell CLL/lymphoma 6							113.0	133.0	126.0					3																	187447157		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447157C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1036G>A	3.37:g.187447157C>T	ENSP00000384371:p.Glu346Lys	False	False		Somatic	0				BCL6_ENST00000450123.2_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000449623.1_Intron	p.E346K	NM_001706.4	NP_001697.2	WXS	Illumina HiSeq	Phase_I	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1402	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		346					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1036G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100426	0.94245	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.14391	2.51;2.51;2.6	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.73380	0.978;0.98	T	0.01382	-1.1369	10	0.56958	D	0.05	.	18.9993	0.92826	0.0:1.0:0.0:0.0	.	346;346	B8PSA7;P41182	.;BCL6_HUMAN	K	346	ENSP00000384371:E346K;ENSP00000232014:E346K;ENSP00000413122:E346K	ENSP00000232014:E346K	E	-	1	0	BCL6	188929851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.260000	0.78391	2.815000	0.96918	0.561000	0.74099	GAG		0.587	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	0	NM_138931		3:187447157
BVES	11149	broad.mit.edu	37	6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	rs369142492		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438																																						ENST00000314641.5		NA																	1	Substitution - Missense(1)	p.K157R(1)	prostate(1)	NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(469-471)aAg>aGg		blood vessel epicardial substance		T	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	160.0	160.0	160.0		470,470,470	3.3	1.0	6		160	1,8599		0,1,4299	no	missense,missense,missense	BVES	NM_147147.3,NM_007073.4,NM_001199563.1	26,26,26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	157/361,157/361,157/361	105573335	1,13005	2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573335T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.470A>G	6.37:g.105573335T>C	ENSP00000313172:p.Lys157Arg	True	False		Somatic	0				BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R	p.K157R	NM_001199563.1	NP_001186492.1	WXS	Illumina HiSeq	Phase_I	Q8NE79	POPD1_HUMAN			4	686	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	157					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.470A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540510	0.27563	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31510	1.49;1.49;1.49	5.76	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.130282	0.64402	N	0.000002	T	0.07638	0.0192	L	0.31845	0.965	0.39124	D	0.961725	B	0.14438	0.01	B	0.13407	0.009	T	0.12528	-1.0544	10	0.13470	T	0.59	-15.0112	6.8871	0.24208	0.0:0.148:0.1607:0.6914	.	157	Q8NE79	POPD1_HUMAN	R	157	ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R	ENSP00000313172:K157R	K	-	2	0	BVES	105680028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	1.016000	0.39470	0.533000	0.62120	AAG		0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	0	NM_147147		6:105573335
PAQR3	152559	broad.mit.edu	37	4	79847790	79847790	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:79847790G>T	ENST00000512733.1	-	4	800	c.587C>A	c.(586-588)aCg>aAg	p.T196K	PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	196					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCATTGCTGCGTGAGGTAATT	0.458																																						ENST00000512733.1		NA																	0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(586-588)aCg>aAg		progestin and adipoQ receptor family member III							203.0	191.0	195.0					4																	79847790		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79847790G>T	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.587C>A	4.37:g.79847790G>T	ENSP00000421981:p.Thr196Lys	False	False		Somatic	0				PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K	p.T196K	NM_001040202.1	NP_001035292.1	WXS	Illumina HiSeq	Phase_I	Q6TCH7	PAQR3_HUMAN			4	800	-			196					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.587C>A	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200601	0.38905	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.27890	1.64;1.64	5.88	5.88	0.94601	.	0.041428	0.85682	D	0.000000	T	0.29652	0.0740	L	0.42744	1.35	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.11916	-1.0568	10	0.12766	T	0.61	-1.8795	20.2187	0.98312	0.0:0.0:1.0:0.0	.	196	Q6TCH7	PAQR3_HUMAN	K	196	ENSP00000421981:T196K;ENSP00000370019:T196K	ENSP00000344203:T196K	T	-	2	0	PAQR3	80066814	1.000000	0.71417	0.997000	0.53966	0.117000	0.20001	6.142000	0.71750	2.780000	0.95670	0.655000	0.94253	ACG		0.458	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	0	NM_177453		4:79847790
KRT76	51350	broad.mit.edu	37	12	53165942	53165942	+	Missense_Mutation	SNP	C	C	T	rs61730598	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:53165942C>T	ENST00000332411.2	-	5	1126	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	358	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R358H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATACTGGGCGCGGACCTCGGC	0.587													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20630	0.0		0.0	False		,,,				2504	0.0					ENST00000332411.2		NA																	1	Substitution - Missense(1)	p.R358H(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1072-1074)cGc>cAc		keratin 76		C	HIS/ARG	13,4393	20.2+/-43.8	0,13,2190	89.0	77.0	81.0		1073	-2.3	0.0	12	dbSNP_129	81	0,8600	1.2+/-3.3	0,0,4300	no	missense	KRT76	NM_015848.4	29	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	probably-damaging	358/639	53165942	13,12993	2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53165942C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1073G>A	12.37:g.53165942C>T	ENSP00000330101:p.Arg358His	False	False		Somatic	0					p.R358H	NM_015848.4	NP_056932.2	WXS	Illumina HiSeq	Phase_I	Q01546	K22O_HUMAN			5	1126	-			358			Coil 2.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1073G>A	CCDS8838.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.82	2.053838	0.36277	0.002951	0.0	ENSG00000185069	ENST00000332411	D	0.93307	-3.2	4.42	-2.3	0.06785	Filament (1);	0.734040	0.11408	N	0.567073	D	0.96494	0.8856	M	0.90814	3.15	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	D	0.91683	0.5360	10	0.87932	D	0	.	11.445	0.50118	0.0:0.3928:0.0:0.6072	.	358	Q01546	K22O_HUMAN	H	358	ENSP00000330101:R358H	ENSP00000330101:R358H	R	-	2	0	KRT76	51452209	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	0.434000	0.21494	-0.489000	0.06716	0.462000	0.41574	CGC		0.587	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	0	NM_015848		12:53165942
CATSPER2	117155	broad.mit.edu	37	15	43924970	43924970	+	Silent	SNP	G	G	T	rs140242525	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:43924970G>T	ENST00000321596.5	-	11	1540	c.1341C>A	c.(1339-1341)tcC>tcA	p.S447S	CATSPER2_ENST00000381761.1_Silent_p.S451S|CATSPER2_ENST00000396879.1_Silent_p.S445S|CATSPER2_ENST00000355438.2_Intron|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.S445S			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	447	Ser-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		aggatgtggaggagacacagg	0.378													.|||	2	0.000399361	0.0008	0.0	5008	,	,		19969	0.001		0.0	False		,,,				2504	0.0					ENST00000396879.1		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1333-1335)tcC>tcA		cation channel, sperm associated 2		G	,	0,4398		0,0,2199	127.0	122.0	123.0		1335,1341	-1.0	0.0	15	dbSNP_134	123	3,8589	2.2+/-6.3	0,3,4293	no	coding-synonymous,coding-synonymous	CATSPER2	NM_054020.2,NM_172095.1	,	0,3,6492	TT,TG,GG		0.0349,0.0,0.0231	,	445/529,447/531	43924970	3,12987	2199	4296	6495	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43924970G>T	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1341C>A	15.37:g.43924970G>T		False	False		Somatic	0				CATSPER2_ENST00000355438.2_Intron|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Silent_p.S447S|CATSPER2_ENST00000354127.4_Silent_p.S445S|CATSPER2_ENST00000381761.1_Silent_p.S451S	p.S445S	NM_001282309.1	NP_001269238.1	WXS	Illumina HiSeq	Phase_I	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	12	1447	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	447			Ser-rich.		Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.1335C>A	CCDS10099.1																																																																																				0.378	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	0	NM_054020		15:43924970
TRAPPC12	51112	broad.mit.edu	37	2	3392315	3392315	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:3392315C>T	ENST00000324266.5	+	2	1116	c.921C>T	c.(919-921)aaC>aaT	p.N307N	TRAPPC12_ENST00000382110.2_Silent_p.N307N	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	307					vesicle-mediated transport (GO:0016192)												ACCGGAGGAACGACGCCTGGC	0.677																																						ENST00000324266.5		NA																	0					NA						c.(919-921)aaC>aaT		trafficking protein particle complex 12							36.0	31.0	33.0					2																	3392315		2202	4298	6500	SO:0001819	synonymous_variant	51112						binding	g.chr2:3392315C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.921C>T	2.37:g.3392315C>T		False	False		Somatic	0				TRAPPC12_ENST00000382110.2_Silent_p.N307N	p.N307N	NM_016030.5	NP_057114.5	WXS	Illumina HiSeq	Phase_I	Q8WVT3	TTC15_HUMAN			2	1116	+			307					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.921C>T	CCDS1652.1																																																																																				0.677	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	0	NM_016030		2:3392315
SLC16A11	162515	broad.mit.edu	37	17	6945697	6945697	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:6945697G>A	ENST00000308009.1	-	3	1141	c.804C>T	c.(802-804)caC>caT	p.H268H	SLC16A11_ENST00000447225.1_Silent_p.H244H	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	268					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGTCTAAAGCGTGGGGAGCCA	0.672																																						ENST00000308009.1		NA																	0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(802-804)caC>caT		solute carrier family 16, member 11							19.0	15.0	16.0					17																	6945697		2168	4282	6450	SO:0001819	synonymous_variant	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6945697G>A	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.804C>T	17.37:g.6945697G>A		False	False		Somatic	0				SLC16A11_ENST00000447225.1_Silent_p.H244H	p.H268H	NM_153357.1	NP_699188.1	WXS	Illumina HiSeq	Phase_I	Q8NCK7	MOT11_HUMAN			3	1141	-			268						Silent	SNP	ENST00000308009.1	37	c.804C>T	CCDS11086.1																																																																																				0.672	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	0	NM_153357		17:6945697
GPR176	11245	broad.mit.edu	37	15	40093386	40093386	+	Missense_Mutation	SNP	G	G	A	rs373118560		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:40093386G>A	ENST00000561100.1	-	3	2360	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Missense_Mutation_p.R498W|GPR176_ENST00000560729.1_5'Flank	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	499					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCATCTTCCGCTCCACCCTG	0.512																																						ENST00000299092.3		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(1492-1494)Cgg>Tgg		G protein-coupled receptor 176		G	TRP/ARG	0,4406		0,0,2203	111.0	102.0	105.0		1495	3.2	1.0	15		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR176	NM_007223.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	499/516	40093386	1,13005	2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093386G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1495C>T	15.37:g.40093386G>A	ENSP00000453076:p.Arg499Trp	False	False		Somatic	0				GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000561100.1_Missense_Mutation_p.R499W|RP11-37C7.1_ENST00000558616.1_RNA	p.R498W	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	WXS	Illumina HiSeq	Phase_I	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	4	1690	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	499					Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.1492C>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188762	0.57909	0.0	1.16E-4	ENSG00000166073	ENST00000299092;ENST00000543580	D	0.85556	-2.0	6.17	3.22	0.36961	.	0.112267	0.64402	N	0.000014	T	0.76357	0.3976	L	0.48642	1.525	0.58432	D	0.999999	B	0.33135	0.399	B	0.23275	0.045	T	0.74858	-0.3521	10	0.87932	D	0	-10.342	8.0277	0.30446	0.1344:0.0:0.6508:0.2148	.	499	Q14439	GP176_HUMAN	W	499;454	ENSP00000439361:R454W	ENSP00000299092:R499W	R	-	1	2	GPR176	37880678	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.812000	0.47994	0.939000	0.37446	0.655000	0.94253	CGG		0.512	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	0	NM_007223		15:40093386
COL24A1	255631	broad.mit.edu	37	1	86590618	86590618	+	Silent	SNP	A	A	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:86590618A>C	ENST00000370571.2	-	3	1767	c.1401T>G	c.(1399-1401)acT>acG	p.T467T	COL24A1_ENST00000436319.1_Silent_p.T467T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	467					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CATAAAGCTCAGTTTCATAGC	0.373																																						ENST00000370571.2		NA																	0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1399-1401)acT>acG		collagen, type XXIV, alpha 1							76.0	68.0	71.0					1																	86590618		1826	4083	5909	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590618A>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1401T>G	1.37:g.86590618A>C		False	False		Somatic	0				COL24A1_ENST00000436319.1_Silent_p.T467T	p.T467T	NM_152890.5	NP_690850.2	WXS	Illumina HiSeq	Phase_I	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1767	-			467					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.1401T>G	CCDS41353.1																																																																																				0.373	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	0	NM_152890		1:86590618
ZNF254	9534	broad.mit.edu	37	19	24309885	24309885	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393																																						ENST00000357002.4		NA																	0					NA						c.(1081-1083)caG>caA		zinc finger protein 254							57.0	58.0	58.0					19																	24309885		2201	4293	6494	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309885G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1083G>A	19.37:g.24309885G>A		False	False		Somatic	0				ZNF254_ENST00000342944.6_Silent_p.Q276Q	p.Q361Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	WXS	Illumina HiSeq	Phase_I	O75437	ZN254_HUMAN			4	1198	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	361					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1083G>A	CCDS32983.1																																																																																				0.393	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	0	NM_004876		19:24309885
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578394
DYSF	8291	broad.mit.edu	37	2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1931					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCTCAACCGCATGCCCAAG	0.547																																						ENST00000258104.3		NA																	0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(5791-5793)cGc>cAc		dysferlin							117.0	107.0	111.0					2																	71906211		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71906211G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5792G>A	2.37:g.71906211G>A	ENSP00000258104:p.Arg1931His	False	False		Somatic	0				DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H	p.R1931H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina HiSeq	Phase_I	O75923	DYSF_HUMAN			52	6069	+			1931					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.5792G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102291	0.20632	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.28	-7.9	0.01169	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.552015	0.21044	N	0.081119	T	0.49029	0.1533	N	0.21373	0.66	0.30778	N	0.742287	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.003;0.003;0.003;0.001;0.0;0.0;0.0;0.001;0.003;0.001;0.0;0.001;0.003;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.002;0.002;0.005;0.005;0.005;0.002;0.003;0.005;0.002;0.005;0.002;0.002;0.005;0.005;0.002	T	0.09618	-1.0666	10	0.20046	T	0.44	-2.9078	15.6058	0.76668	0.6902:0.0:0.3098:0.0	.	695;1963;1970;1953;1918;1949;1939;1948;1938;1962;1969;1952;1917;1932;1931	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1962;1948;1969;1952;1931;1963;1932;1939;1953;1970;1949	ENSP00000407046:R1962H;ENSP00000387137:R1948H;ENSP00000386547:R1969H;ENSP00000398305:R1952H;ENSP00000258104:R1931H;ENSP00000386683:R1963H;ENSP00000377678:R1932H;ENSP00000386285:R1939H;ENSP00000386512:R1953H;ENSP00000386881:R1970H;ENSP00000386617:R1949H	ENSP00000258104:R1931H	R	+	2	0	DYSF	71759719	0.012000	0.17670	0.251000	0.24312	0.982000	0.71751	-0.679000	0.05203	-2.260000	0.00692	-0.897000	0.02905	CGC		0.547	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	0	NM_003494		2:71906211
RIMBP3	85376	broad.mit.edu	37	22	20457064	20457064	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:20457064C>T	ENST00000426804.1	-	1	4722	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1413										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCTCTTCACCCCCAGAGCTTG	0.632																																						ENST00000426804.1		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(4237-4239)gGg>gAg		RIMS binding protein 3							5.0	7.0	6.0					22																	20457064		1076	2880	3956	SO:0001583	missense	85376							g.chr22:20457064C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4238G>A	22.37:g.20457064C>T	ENSP00000391564:p.Gly1413Glu	True	False		Somatic	0					p.G1413E	NM_015672.1	NP_056487.1	WXS	Illumina HiSeq	Phase_I			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	4722	-	Colorectal(54;0.0993)|Melanoma(16;0.165)		NA					Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.4238G>A	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515436	0.44763	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17054	2.3	3.58	2.51	0.30379	.	1.948520	0.02516	N	0.092008	T	0.22399	0.0540	L	0.52573	1.65	0.09310	N	1	D	0.54047	0.964	B	0.44224	0.444	T	0.24368	-1.0162	10	0.66056	D	0.02	-6.4639	8.1334	0.31039	0.2404:0.7596:0.0:0.0	.	1319	Q9UFD9	RIM3A_HUMAN	E	1319;1413	ENSP00000391564:G1413E	ENSP00000347318:G1319E	G	-	2	0	RIMBP3	18837064	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.054000	0.14205	0.805000	0.34159	0.423000	0.28283	GGG		0.632	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	0	NM_015672		22:20457064
PDZRN3	23024	broad.mit.edu	37	3	73438995	73438995	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:73438995C>T	ENST00000263666.4	-	7	1502	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	463	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTCGGATGCGCCCATCCTT	0.468																																						ENST00000263666.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1387-1389)cGc>cAc		PDZ domain containing ring finger 3							174.0	133.0	147.0					3																	73438995		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73438995C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1388G>A	3.37:g.73438995C>T	ENSP00000263666:p.Arg463His	False	False		Somatic	0				PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H	p.R463H	NM_015009.1	NP_055824.1	WXS	Illumina HiSeq	Phase_I	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	7	1502	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	463			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1388G>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.541639|5.541639	0.96474|0.96474	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71;0.71;0.71	5.43|5.43	5.43|5.43	0.79202|0.79202	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.93550|0.93550	3.43|3.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.997;0.999;0.998	D|D	0.84050|0.84050	0.0369|0.0369	5|10	.|0.87932	.|D	.|0	.|.	18.8532|18.8532	0.92241|0.92241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|185;180;180;463	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	T|H	60|463;185;120;120;180;463;161	.|ENSP00000263666:R463H;ENSP00000442026:R185H;ENSP00000418168:R120H;ENSP00000418484:R120H;ENSP00000418624:R180H;ENSP00000419250:R161H	.|ENSP00000263666:R463H	A|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73521685|73521685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.638000|7.638000	0.83328|0.83328	2.547000|2.547000	0.85894|0.85894	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.468	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	XM_041363		3:73438995
SDS	10993	broad.mit.edu	37	12	113831803	113831803	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:113831803G>A	ENST00000257549.4	-	7	794	c.672C>T	c.(670-672)ggC>ggT	p.G224G		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	224					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	CAGTCTTCACGCCCAGGGCCT	0.577																																						ENST00000257549.4		NA																	0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(670-672)ggC>ggT		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						46.0	46.0	46.0					12																	113831803		2203	4300	6503	SO:0001819	synonymous_variant	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113831803G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.672C>T	12.37:g.113831803G>A		True	False		Somatic	0					p.G224G	NM_006843.2	NP_006834.2	WXS	Illumina HiSeq	Phase_I	P20132	SDHL_HUMAN			7	794	-			224					A8K9P5	Silent	SNP	ENST00000257549.4	37	c.672C>T	CCDS9169.1																																																																																				0.577	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	0	NM_006843		12:113831803
SNRNP200	23020	broad.mit.edu	37	2	96969044	96969044	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:96969044C>T	ENST00000323853.5	-	3	311	c.234G>A	c.(232-234)cgG>cgA	p.R78R	SNRNP200_ENST00000349783.5_Silent_p.R78R	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	78					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGATGTCATGCCGGTCCTCAT	0.498																																						ENST00000323853.5		NA																	0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(232-234)cgG>cgA		small nuclear ribonucleoprotein 200kDa (U5)							314.0	298.0	303.0					2																	96969044		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96969044C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.234G>A	2.37:g.96969044C>T		False	False		Somatic	0				SNRNP200_ENST00000349783.5_Silent_p.R78R	p.R78R	NM_014014.4	NP_054733.2	WXS	Illumina HiSeq	Phase_I	O75643	U520_HUMAN			3	311	-			78					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.234G>A	CCDS2020.1																																																																																				0.498	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	0	NM_014014		2:96969044
ACTR8	93973	broad.mit.edu	37	3	53906488	53906488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:53906488G>A	ENST00000335754.3	-	10	1325	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*|ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*|ACTR8_ENST00000488802.1_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	409					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GATCTGTGCTGCAAAGTCGTC	0.463																																						ENST00000335754.3		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(1225-1227)Cag>Tag		ARP8 actin-related protein 8 homolog (yeast)							211.0	223.0	219.0					3																	53906488		2203	4300	6503	SO:0001587	stop_gained	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53906488G>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1225C>T	3.37:g.53906488G>A	ENSP00000336842:p.Gln409*	False	False		Somatic	0				ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*	p.Q409*	NM_022899.4	NP_075050.3	WXS	Illumina HiSeq	Phase_I	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	10	1325	-			409					B3KSW7|Q8N566|Q9H663	Nonsense_Mutation	SNP	ENST00000335754.3	37	c.1225C>T	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	38	6.893393	0.97916	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	.	.	.	5.87	5.87	0.94306	.	0.059585	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2682	18.7629	0.91860	0.0:0.0:1.0:0.0	.	.	.	.	X	409;298;114	.	ENSP00000231909:Q114X	Q	-	1	0	ACTR8	53881528	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	CAG		0.463	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	0	NM_022899		3:53906488
MAP2	4133	broad.mit.edu	37	2	210560818	210560818	+	Silent	SNP	C	C	T	rs368301391		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:210560818C>T	ENST00000360351.4	+	7	4430	c.3924C>T	c.(3922-3924)agC>agT	p.S1308S	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.S1304S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1308					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGTCCCACAGCGTGCGTTTTG	0.507																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4		NA																	0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3922-3924)agC>agT		microtubule-associated protein 2	Estramustine(DB01196)	C	,,,	0,4406		0,0,2203	113.0	113.0	113.0		,3924,,	-6.7	0.8	2		113	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,1308/1828,,	210560818	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560818C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3924C>T	2.37:g.210560818C>T		True	False		Somatic	0				MAP2_ENST00000447185.1_Silent_p.S1304S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	p.S1308S	NM_002374.3	NP_002365.3	WXS	Illumina HiSeq	Phase_I	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4430	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1308					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.3924C>T	CCDS2384.1																																																																																				0.507	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	0	NM_001039538		2:210560818
CTSD	1509	broad.mit.edu	37	11	1776217	1776217	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:1776217C>T	ENST00000236671.2	-	6	878	c.746G>A	c.(745-747)gGc>gAc	p.G249D	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A120T	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	249					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGAGTCTGTGCCACCCAGCAT	0.602																																						ENST00000236671.2		NA																	0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(745-747)gGc>gAc		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						116.0	103.0	107.0					11																	1776217		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1776217C>T	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.746G>A	11.37:g.1776217C>T	ENSP00000236671:p.Gly249Asp	False	False		Somatic	0				RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A120T	p.G249D	NM_001909.4	NP_001900.1	WXS	Illumina HiSeq	Phase_I	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	6	878	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	249					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.746G>A	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.25|17.25	3.342878|3.342878	0.61073|0.61073	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000438213	.|T;T	.|0.66099	.|-0.19;-0.06	4.25|4.25	4.25|4.25	0.50352|0.50352	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82641|0.82641	0.5081|0.5081	M|M	0.93328|0.93328	3.405|3.405	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|P	.|0.61477	.|0.889	D|D	0.88140|0.88140	0.2844|0.2844	5|10	.|0.72032	.|D	.|0.01	.|.	17.2115|17.2115	0.86931|0.86931	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|249	.|P07339	.|CATD_HUMAN	T|D	120|249;234	.|ENSP00000236671:G249D;ENSP00000415036:G234D	.|ENSP00000236671:G249D	A|G	-|-	1|2	0|0	RP11-295K3.1|CTSD	1732793|1732793	1.000000|1.000000	0.71417|0.71417	0.109000|0.109000	0.21407|0.21407	0.053000|0.053000	0.15095|0.15095	6.912000|6.912000	0.75753|0.75753	2.373000|2.373000	0.80994|0.80994	0.455000|0.455000	0.32223|0.32223	GCA|GGC		0.602	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	0	NM_001909		11:1776217
TRIM42	287015	broad.mit.edu	37	3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	rs116143762		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:140397090G>A	ENST00000286349.3	+	1	210	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	7	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCTATGTGCGTTTGCTGTCC	0.507																																						ENST00000286349.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(19-21)Gtt>Att		tripartite motif containing 42		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	368.0	307.0	328.0		19	0.6	1.0	3	dbSNP_132	328	0,8600		0,0,4300	no	missense	TRIM42	NM_152616.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	7/724	140397090	1,13005	2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397090G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.19G>A	3.37:g.140397090G>A	ENSP00000286349:p.Val7Ile	True	False		Somatic	0					p.V7I	NM_152616.4	NP_689829.3	WXS	Illumina HiSeq	Phase_I	Q8IWZ5	TRI42_HUMAN			1	210	+			7			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.19G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838139	0.16891	2.27E-4	0.0	ENSG00000155890	ENST00000286349	T	0.37411	1.2	5.37	0.561	0.17285	.	0.904453	0.09312	N	0.819434	T	0.14874	0.0359	N	0.03608	-0.345	0.20764	N	0.999857	B	0.09022	0.002	B	0.04013	0.001	T	0.25082	-1.0142	10	0.29301	T	0.29	-13.3898	5.8185	0.18514	0.1808:0.4034:0.4158:0.0	.	7	Q8IWZ5	TRI42_HUMAN	I	7	ENSP00000286349:V7I	ENSP00000286349:V7I	V	+	1	0	TRIM42	141879780	0.019000	0.18553	0.964000	0.40570	0.414000	0.31173	0.278000	0.18753	0.657000	0.30906	-0.214000	0.12660	GTT		0.507	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	0	NM_152616		3:140397090
VPS13A	23230	broad.mit.edu	37	9	80020889	80020889	+	Missense_Mutation	SNP	C	C	T	rs547927864		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:80020889C>T	ENST00000360280.3	+	70	9645	c.9385C>T	c.(9385-9387)Cgc>Tgc	p.R3129C	VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C|VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3129					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGAAGATTGCGCATTGAAGC	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17884	0.0		0.0	False		,,,				2504	0.0					ENST00000360280.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(9385-9387)Cgc>Tgc		vacuolar protein sorting 13 homolog A (S. cerevisiae)							187.0	178.0	181.0					9																	80020889		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:80020889C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9385C>T	9.37:g.80020889C>T	ENSP00000353422:p.Arg3129Cys	False	False		Somatic	0				VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C|VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C	p.R3129C	NM_033305.2	NP_150648.2	WXS	Illumina HiSeq	Phase_I	Q96RL7	VP13A_HUMAN			70	9645	+			3129					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.9385C>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109496	0.77096	.	.	ENSG00000197969	ENST00000376636;ENST00000360280;ENST00000484581;ENST00000376646	T;T;T;T	0.72505	0.79;0.88;-0.66;-0.66	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81489	0.4833	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.94;0.993	T	0.78301	-0.2257	9	.	.	.	.	19.9276	0.97108	0.0:1.0:0.0:0.0	.	3090;3129	Q96RL7-3;Q96RL7	.;VP13A_HUMAN	C	3090;3129;65;65	ENSP00000365823:R3090C;ENSP00000353422:R3129C;ENSP00000446020:R65C;ENSP00000365834:R65C	.	R	+	1	0	VPS13A	79210709	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	7.294000	0.78760	2.801000	0.96364	0.650000	0.86243	CGC		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	NM_015186		9:80020889
DNMT3A	1788	broad.mit.edu	37	2	25505406	25505406	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:25505406C>T	ENST00000264709.3	-	4	689	c.352G>A	c.(352-354)Gga>Aga	p.G118R	DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R|DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	118					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCCTCTCCCTCTGCTGGG	0.657			"""Mis, F, N, S"""		AML																																	ENST00000264709.3		NA		Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(352-354)Gga>Aga		DNA (cytosine-5-)-methyltransferase 3 alpha							33.0	38.0	36.0					2																	25505406		2202	4299	6501	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25505406C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.352G>A	2.37:g.25505406C>T	ENSP00000264709:p.Gly118Arg	True	False		Somatic	0				DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R	p.G118R	NM_175629.2	NP_783328.1	WXS	Illumina HiSeq	Phase_I	Q9Y6K1	DNM3A_HUMAN			4	689	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		118					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.352G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669794	0.67814	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.93712	-3.27;-3.27	4.91	3.07	0.35406	.	0.000000	0.42964	D	0.000639	D	0.84524	0.5491	N	0.14661	0.345	0.33870	D	0.634862	B;B	0.23735	0.09;0.001	B;B	0.23419	0.046;0.0	T	0.82859	-0.0249	10	0.62326	D	0.03	-5.5202	5.9618	0.19303	0.0:0.7014:0.1958:0.1028	.	118;118	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	R	118	ENSP00000324375:G118R;ENSP00000264709:G118R	ENSP00000264709:G118R	G	-	1	0	DNMT3A	25358910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.020000	0.41010	1.046000	0.40249	0.563000	0.77884	GGA		0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	0	NM_022552		2:25505406
STIM2	57620	broad.mit.edu	37	4	27019384	27019384	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:27019384G>A	ENST00000467011.1	+	11	1966	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000465503.1_Missense_Mutation_p.R522H|STIM2_ENST00000382009.3_Missense_Mutation_p.R609H|STIM2_ENST00000412829.2_Missense_Mutation_p.R601H	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	514					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.R601L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGCCTGTGCCGTTCACGCCGC	0.597																																						ENST00000382009.3		NA																	1	Substitution - Missense(1)	p.R601L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1825-1827)cGt>cAt		stromal interaction molecule 2							176.0	159.0	165.0					4																	27019384		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019384G>A	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1541G>A	4.37:g.27019384G>A	ENSP00000419383:p.Arg514His	False	False		Somatic	0				STIM2_ENST00000465503.1_Missense_Mutation_p.R522H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000412829.2_Missense_Mutation_p.R601H|STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000467011.1_Missense_Mutation_p.R514H	p.R609H	NM_001169118.1	NP_001162589.1	WXS	Illumina HiSeq	Phase_I	Q9P246	STIM2_HUMAN			12	2093	+		Breast(46;0.0503)	514					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.1826G>A	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637661	0.87760	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.79940	-1.2;-1.22;-1.23;-1.2;-1.23;-1.18;-1.32;-1.31	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87649	0.6230	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.991;0.991;0.996	D	0.87975	0.2739	10	0.72032	D	0.01	.	19.7974	0.96491	0.0:0.0:1.0:0.0	.	514;601;609;601	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	H	514;609;601;514;601;522;222;116	ENSP00000419073:R514H;ENSP00000371439:R609H;ENSP00000237364:R601H;ENSP00000419383:R514H;ENSP00000404812:R601H;ENSP00000417569:R522H;ENSP00000420113:R222H;ENSP00000419536:R116H	ENSP00000237364:R601H	R	+	2	0	STIM2	26628482	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.877000	0.87225	2.673000	0.90976	0.650000	0.86243	CGT		0.597	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	0	NM_020860		4:27019384
ASIC1	41	broad.mit.edu	37	12	50471790	50471790	+	Silent	SNP	G	G	A	rs149521223	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:50471790G>A	ENST00000447966.2	+	5	946	c.717G>A	c.(715-717)acG>acA	p.T239T	ASIC1_ENST00000228468.4_Silent_p.T239T|ASIC1_ENST00000552438.1_Silent_p.T273T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	239					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TAGACGAGACGTCCTTCGAAG	0.567																																						ENST00000228468.4		NA																	0					NA						c.(715-717)acG>acA		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)	G	,	0,4406		0,0,2203	160.0	129.0	139.0		717,717	-1.4	1.0	12	dbSNP_134	139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ACCN2	NM_001095.2,NM_020039.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	239/529,239/575	50471790	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50471790G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.717G>A	12.37:g.50471790G>A		True	False		Somatic	0				ASIC1_ENST00000552438.1_Silent_p.T273T|ASIC1_ENST00000447966.2_Silent_p.T239T	p.T239T	NM_020039.3	NP_064423.2	WXS	Illumina HiSeq	Phase_I	P78348	ACCN2_HUMAN			5	1102	+			239					A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	c.717G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	9.192	1.026162	0.19512	0.0	2.33E-4	ENSG00000110881	ENST00000453327	.	.	.	4.18	-1.42	0.08913	.	.	.	.	.	T	0.40067	0.1102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	-10.8698	1.7327	0.02935	0.3697:0.3152:0.1972:0.1179	.	.	.	.	H	107	.	.	R	+	2	0	ACCN2	48758057	0.130000	0.22417	0.997000	0.53966	0.966000	0.64601	-0.452000	0.06787	-0.083000	0.12618	-0.300000	0.09419	CGT		0.567	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	0	NM_020039		12:50471790
TRPV4	59341	broad.mit.edu	37	12	110234507	110234507	+	Silent	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110234507G>T	ENST00000418703.2	-	6	1249	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000536838.1_Silent_p.I351I|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000261740.2_Silent_p.I385I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	385				I -> V (in Ref. 1; AAG28029). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTGCTGAAAGATCTGCACAG	0.612																																						ENST00000418703.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1153-1155)atC>atA		transient receptor potential cation channel, subfamily V, member 4							61.0	56.0	58.0					12																	110234507		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110234507G>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1155C>A	12.37:g.110234507G>T		True	False		Somatic	0				TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000261740.2_Silent_p.I385I|TRPV4_ENST00000536838.1_Silent_p.I351I|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000346520.2_Intron	p.I385I	NM_001177431.1	NP_001170902.1	WXS	Illumina HiSeq	Phase_I	Q9HBA0	TRPV4_HUMAN			6	1249	-			385	I -> V (in Ref. 1; AAG28029).				B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1155C>A	CCDS9134.1																																																																																				0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	NM_021625		12:110234507
PCDH17	27253	broad.mit.edu	37	13	58299162	58299162	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr13:58299162T>G	ENST00000377918.3	+	4	3240	c.3214T>G	c.(3214-3216)Ttg>Gtg	p.L1072V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1072					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1072V(2)|p.L1072L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3		NA																	3	Substitution - Missense(2)|Substitution - coding silent(1)	p.L1072V(2)|p.L1072L(1)	prostate(1)|large_intestine(1)|lung(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3214-3216)Ttg>Gtg		protocadherin 17							107.0	103.0	104.0					13																	58299162		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299162T>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3214T>G	13.37:g.58299162T>G	ENSP00000367151:p.Leu1072Val	False	False		Somatic	0					p.L1072V	NM_001040429.2	NP_001035519.1	WXS	Illumina HiSeq	Phase_I	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3240	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1072					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3214T>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	T	6.250	0.414235	0.11870	.	.	ENSG00000118946	ENST00000377918	T	0.50813	0.73	5.96	1.04	0.20106	.	0.144833	0.46758	D	0.000262	T	0.26521	0.0648	N	0.22421	0.69	0.31959	N	0.608665	B	0.20261	0.043	B	0.16722	0.016	T	0.15867	-1.0422	9	.	.	.	.	5.7106	0.17933	0.1369:0.428:0.0:0.4351	.	1072	O14917	PCD17_HUMAN	V	1072	ENSP00000367151:L1072V	.	L	+	1	2	PCDH17	57197163	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.380000	0.20602	0.182000	0.20032	0.533000	0.62120	TTG		0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	0	NM_001040429		13:58299162
CNPY4	245812	broad.mit.edu	37	7	99720455	99720455	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:99720455G>C	ENST00000262932.3	+	4	523	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000437822.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	131						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGAAGGGGGTGAAGGTGGA	0.557																																						ENST00000262932.3		NA																	0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(391-393)Gtg>Ctg		canopy FGF signaling regulator 4							79.0	68.0	72.0					7																	99720455		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99720455G>C	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.391G>C	7.37:g.99720455G>C	ENSP00000262932:p.Val131Leu	True	False		Somatic	0				CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.V131L	NM_152755.1	NP_689968.1	WXS	Illumina HiSeq	Phase_I	Q8N129	CNPY4_HUMAN			4	523	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		131					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.391G>C	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042190	0.93685	.	.	ENSG00000166997	ENST00000262932	T	0.39592	1.07	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.64567	1.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.60357	-0.7279	10	0.48119	T	0.1	-23.8167	15.1914	0.73047	0.0:0.0:1.0:0.0	.	131	Q8N129	CNPY4_HUMAN	L	131	ENSP00000262932:V131L	ENSP00000262932:V131L	V	+	1	0	CNPY4	99558391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.873000	0.87193	2.654000	0.90174	0.561000	0.74099	GTG		0.557	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	0	NM_152755		7:99720455
CDH18	1016	broad.mit.edu	37	5	19839078	19839078	+	Silent	SNP	T	T	A	rs148353712		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr5:19839078T>A	ENST00000507958.1	-	5	1008	c.18A>T	c.(16-18)acA>acT	p.T6T	CDH18_ENST00000502796.1_Silent_p.T6T|CDH18_ENST00000506372.1_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000274170.4_Silent_p.T6T			Q13634	CAD18_HUMAN	cadherin 18, type 2	6					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGATGCAAGATGTGCTAGTAA	0.428																																						ENST00000507958.1		NA																	0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(16-18)acA>acT		cadherin 18, type 2							146.0	122.0	130.0					5																	19839078		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19839078T>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.18A>T	5.37:g.19839078T>A		False	False		Somatic	0				CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000502796.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000506372.1_Silent_p.T6T	p.T6T			WXS	Illumina HiSeq	Phase_I	Q13634	CAD18_HUMAN			5	1008	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		6					A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.18A>T	CCDS3889.1																																																																																				0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	0	NM_004934		5:19839078
SATL1	340562	broad.mit.edu	37	X	84362345	84362345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:84362345G>A	ENST00000395409.3	-	1	1629	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*|SATL1_ENST00000509231.1_Nonsense_Mutation_p.R544*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	357	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)	p.R544R(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTAATCAGTCGCAAAATTTCT	0.458																																						ENST00000509231.1		NA																	1	Substitution - coding silent(1)	p.R544R(1)	endometrium(1)	NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1630-1632)Cga>Tga		spermidine/spermine N1-acetyl transferase-like 1							53.0	44.0	47.0					X																	84362345		2203	4300	6503	SO:0001587	stop_gained	340562						N-acetyltransferase activity	g.chrX:84362345G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1069C>T	X.37:g.84362345G>A	ENSP00000378804:p.Arg357*	False	False		Somatic	0				SATL1_ENST00000395409.3_Nonsense_Mutation_p.R357*|SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*	p.R544*			WXS	Illumina HiSeq	Phase_I	Q86VE3	SATL1_HUMAN			1	1709	-			357					A0AVK7|E9PB72|Q5H8V9	Nonsense_Mutation	SNP	ENST00000395409.3	37	c.1630C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.626167	0.97714	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	.	.	.	3.54	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7275	9.2535	0.37568	0.0:0.0:0.7766:0.2234	.	.	.	.	X	357;357;544	.	ENSP00000329115:R357X	R	-	1	2	SATL1	84249001	0.291000	0.24352	0.213000	0.23690	0.003000	0.03518	3.144000	0.50616	0.828000	0.34709	0.506000	0.49869	CGA		0.458	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	XM_291339		X:84362345
IGHM	3507	broad.mit.edu	37	14	106320735	106320735	+	RNA	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:106320735C>T	ENST00000390559.2	-	0	1074				hsa-mir-4539_ENST00000579784.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										AAGACGTCCGCGGGAGAGAAG	0.672																																						ENST00000390559.2		NA																	0					NA															24.0	29.0	28.0					14																	106320735		2102	4201	6303			0							g.chr14:106320735C>T	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106320735C>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1074	-			NA					P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.672	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	0	NG_001019		14:106320735
AQP7	364	broad.mit.edu	37	9	33385626	33385626	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:33385626G>A	ENST00000537089.1	-	6	806	c.488C>T	c.(487-489)cCa>cTa	p.P163L	AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCAAAGGAATGGGCCTGGGCA	0.622																																						ENST00000537089.1		NA																	0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(487-489)cCa>cTa		aquaporin 7							43.0	51.0	48.0					9																	33385626		2201	4299	6500	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385626G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.488C>T	9.37:g.33385626G>A	ENSP00000441619:p.Pro163Leu	True	False		Somatic	0				AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L	p.P163L			WXS	Illumina HiSeq	Phase_I	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	806	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.488C>T		.	.	.	.	.	.	.	.	.	.	g	16.76	3.211768	0.58452	.	.	ENSG00000165269	ENST00000537089;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D	0.94758	-3.09;-2.02;-2.01;-3.51	4.57	1.49	0.22878	.	.	.	.	.	D	0.95993	0.8695	.	.	.	0.09310	N	0.999995	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.973	D	0.88018	0.2767	8	0.87932	D	0	.	5.5898	0.17295	0.1855:0.0:0.6552:0.1593	.	254;255	Q5T5M0;B7Z4U2	.;.	L	163;254;255;191	ENSP00000441619:P163L;ENSP00000368820:P254L;ENSP00000439534:P255L;ENSP00000368817:P191L	ENSP00000368817:P191L	P	-	2	0	AQP7	33375626	0.000000	0.05858	0.002000	0.10522	0.359000	0.29487	0.295000	0.19065	0.660000	0.30964	0.550000	0.68814	CCA		0.622	AQP7-202	KNOWN	basic	protein_coding	protein_coding		0	NM_001170		9:33385626
RNF34	80196	broad.mit.edu	37	12	121855430	121855430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:121855430C>T	ENST00000392464.2	+	3	418	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RNF34_ENST00000361234.5_Nonsense_Mutation_p.R117*|RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*|RNF34_ENST00000555076.1_Intron					ring finger protein 34, E3 ubiquitin protein ligase									p.R118*(1)		breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TCAGTTAATGCGACTGAAGGT	0.428																																						ENST00000361234.5		NA																	1	Substitution - Nonsense(1)	p.R118*(1)	prostate(1)	breast(1)|large_intestine(1)	2						c.(349-351)Cga>Tga		ring finger protein 34, E3 ubiquitin protein ligase							98.0	91.0	93.0					12																	121855430		2203	4300	6503	SO:0001587	stop_gained	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855430C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.349C>T	12.37:g.121855430C>T	ENSP00000376257:p.Arg117*	False	False		Somatic	0				RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Nonsense_Mutation_p.R117*|RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*	p.R117*	NM_025126.3	NP_079402.2	WXS	Illumina HiSeq	Phase_I	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	521	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		117			SAP 1.			Nonsense_Mutation	SNP	ENST00000392464.2	37	c.349C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.302047	0.81136	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000554606;ENST00000392464;ENST00000354795	.	.	.	5.87	1.75	0.24633	.	0.108690	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-11.5701	16.5911	0.84765	0.5926:0.4074:0.0:0.0	.	.	.	.	X	117;118;110;117;118	.	ENSP00000346850:R118X	R	+	1	2	RNF34	120339813	0.997000	0.39634	0.999000	0.59377	0.982000	0.71751	0.562000	0.23531	0.468000	0.27243	-0.152000	0.13540	CGA		0.428	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	0	NM_194271		12:121855430
MYH3	4621	broad.mit.edu	37	17	10555805	10555805	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:10555805G>T	ENST00000583535.1	-	4	367	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	MYH3_ENST00000226209.7_Missense_Mutation_p.L94M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	94	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGGTGCGTCAGCATGGCCATG	0.537																																						ENST00000583535.1		NA																	0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(280-282)Ctg>Atg		myosin, heavy chain 3, skeletal muscle, embryonic							161.0	134.0	143.0					17																	10555805		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555805G>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.280C>A	17.37:g.10555805G>T	ENSP00000464317:p.Leu94Met	False	False		Somatic	0				MYH3_ENST00000226209.7_Missense_Mutation_p.L94M	p.L94M	NM_002470.3	NP_002461.2	WXS	Illumina HiSeq	Phase_I	P11055	MYH3_HUMAN			4	367	-			94			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.280C>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	2.188	-0.385929	0.04966	.	.	ENSG00000109063	ENST00000226209	D	0.85171	-1.95	4.32	4.32	0.51571	Myosin head, motor domain (2);	.	.	.	.	T	0.77818	0.4187	L	0.41079	1.255	0.31399	N	0.676949	B	0.06786	0.001	B	0.23018	0.043	T	0.66308	-0.5956	9	0.06099	T	0.92	.	13.9535	0.64133	0.0:0.0:0.8481:0.1519	.	94	P11055	MYH3_HUMAN	M	94	ENSP00000226209:L94M	ENSP00000226209:L94M	L	-	1	2	MYH3	10496530	0.928000	0.31464	1.000000	0.80357	0.995000	0.86356	-0.023000	0.12456	2.399000	0.81585	0.650000	0.86243	CTG		0.537	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	0	NM_002470		17:10555805
DOCK1	1793	broad.mit.edu	37	10	129213435	129213435	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:129213435C>T	ENST00000280333.6	+	44	4494	c.4385C>T	c.(4384-4386)aCc>aTc	p.T1462I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1462	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCGAGAGAACCATATATACA	0.448																																						ENST00000280333.6		NA																	0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4384-4386)aCc>aTc		dedicator of cytokinesis 1							105.0	111.0	109.0					10																	129213435		1992	4192	6184	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129213435C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4385C>T	10.37:g.129213435C>T	ENSP00000280333:p.Thr1462Ile	False	False		Somatic	0					p.T1462I	NM_001380.3	NP_001371.1	WXS	Illumina HiSeq	Phase_I	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	44	4494	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1462			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4385C>T		.	.	.	.	.	.	.	.	.	.	C	19.47	3.833993	0.71373	.	.	ENSG00000150760	ENST00000280333	T	0.23348	1.91	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.98;0.988;0.997	T	0.71318	-0.4629	10	0.87932	D	0	.	18.6123	0.91290	0.0:1.0:0.0:0.0	.	1462;1528;1462	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	I	1462	ENSP00000280333:T1462I	ENSP00000280333:T1462I	T	+	2	0	DOCK1	129103425	1.000000	0.71417	0.336000	0.25522	0.625000	0.37756	7.604000	0.82830	2.634000	0.89283	0.650000	0.86243	ACC		0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	0	NM_001380		10:129213435
SETD5	55209	broad.mit.edu	37	3	9490247	9490247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:9490247C>A	ENST00000406341.1	+	15	2469	c.2279C>A	c.(2278-2280)tCa>tAa	p.S760*	SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*|SETD5_ENST00000402466.1_Nonsense_Mutation_p.S662*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000488236.1_3'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	760										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CGCTTTGGCTCACCCTTTATC	0.483																																						ENST00000402466.1		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1984-1986)tCa>tAa		SET domain containing 5							100.0	96.0	97.0					3																	9490247		1944	4154	6098	SO:0001587	stop_gained	55209							g.chr3:9490247C>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2279C>A	3.37:g.9490247C>A	ENSP00000383939:p.Ser760*	False	False		Somatic	0				SETD5_ENST00000406341.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*	p.S662*			WXS	Illumina HiSeq	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	17	2753	+	Medulloblastoma(99;0.227)		760					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Nonsense_Mutation	SNP	ENST00000406341.1	37	c.1985C>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	47	13.671043	0.99756	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0268	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	760;662;760;779;662	.	ENSP00000302028:S662X	S	+	2	0	SETD5	9465247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	TCA		0.483	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	0	XM_371614		3:9490247
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378																																						ENST00000249887.2		NA																	1	Substitution - coding silent(1)	p.L29L(1)	endometrium(1)		NA						c.(85-87)Ctg>Ttg		atypical chemokine receptor 4							58.0	58.0	58.0					3																	132319326		2203	4300	6503	SO:0001819	synonymous_variant	51554							g.chr3:132319326C>T	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	3.37:g.132319326C>T		False	False		Somatic	0				ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	p.L29L	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	WXS	Illumina HiSeq	Phase_I					2	181	+			NA					B2R9U7	Silent	SNP	ENST00000249887.2	37	c.85C>T	CCDS3075.1																																																																																				0.378	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	0	NM_016557		3:132319326
